Links from Gene
Items: 1 to 20 of 1000
1.
rs1491519344 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 2:127341531
(GRCh38)
2:128099108
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127341531::G
- Gene:
- MAP3K2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00012/2
(GnomAD)
- HGVS:
2.
rs1491489155 has merged into rs528977915 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA
[Show Flanks]
- Chromosome:
- 2:127298960
(GRCh38)
2:128056536
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127298953:AAAAAAAA:AAAAAA,NC_000002.12:127298953:AAAAAAAA:AAAAAAA,NC_000002.12:127298953:AAAAAAAA:AAAAAAAAA
- Gene:
- MAP3K2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0.000434/7
(
ALFA)
-=0.003333/2
(NorthernSweden)
-=0.010722/2838
(TOPMED)
-=0.012212/61
(1000Genomes)
- HGVS:
NC_000002.12:g.127298960_127298961del, NC_000002.12:g.127298961del, NC_000002.12:g.127298961dup, NC_000002.11:g.128056536_128056537del, NC_000002.11:g.128056537del, NC_000002.11:g.128056537dup, NG_007454.1:g.222_223del, NG_007454.1:g.223del, NG_007454.1:g.223dup, NM_006609.5:c.*8624_*8625del, NM_006609.5:c.*8625del, NM_006609.5:c.*8625dup, NM_006609.4:c.*8624_*8625del, NM_006609.4:c.*8625del, NM_006609.4:c.*8625dup, NM_001371910.2:c.*8624_*8625del, NM_001371910.2:c.*8625del, NM_001371910.2:c.*8625dup, NM_001371910.1:c.*8624_*8625del, NM_001371910.1:c.*8625del, NM_001371910.1:c.*8625dup, XM_047442989.1:c.*8624_*8625del, XM_047442989.1:c.*8625del, XM_047442989.1:c.*8625dup, XM_047442990.1:c.*8624_*8625del, XM_047442990.1:c.*8625del, XM_047442990.1:c.*8625dup, NM_001371911.1:c.*8624_*8625del, NM_001371911.1:c.*8625del, NM_001371911.1:c.*8625dup, XM_047442991.1:c.*8624_*8625del, XM_047442991.1:c.*8625del, XM_047442991.1:c.*8625dup
3.
rs1491467869 has merged into rs10611311 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:127344499
(GRCh38)
2:128102075
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127344488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:127344488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:127344488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:127344488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:127344488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:127344488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:127344488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:127344488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:127344488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:127344488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MAP3K2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
AA=0.2376/1190
(1000Genomes)
- HGVS:
NC_000002.12:g.127344499_127344506del, NC_000002.12:g.127344500_127344506del, NC_000002.12:g.127344501_127344506del, NC_000002.12:g.127344502_127344506del, NC_000002.12:g.127344503_127344506del, NC_000002.12:g.127344504_127344506del, NC_000002.12:g.127344505_127344506del, NC_000002.12:g.127344506del, NC_000002.12:g.127344506dup, NC_000002.12:g.127344498_127344506dup, NC_000002.11:g.128102075_128102082del, NC_000002.11:g.128102076_128102082del, NC_000002.11:g.128102077_128102082del, NC_000002.11:g.128102078_128102082del, NC_000002.11:g.128102079_128102082del, NC_000002.11:g.128102080_128102082del, NC_000002.11:g.128102081_128102082del, NC_000002.11:g.128102082del, NC_000002.11:g.128102082dup, NC_000002.11:g.128102074_128102082dup
4.
rs1491426940 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 2:127305930
(GRCh38)
2:128063506
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127305929:CT:
- Gene:
- MAP3K2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00008/1
(
ALFA)
-=0.00003/3
(GnomAD)
- HGVS:
5.
rs1491346562 has merged into rs35382458 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 2:127333292
(GRCh38)
2:128090868
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- MAP3K2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACAC=0./0
(
ALFA)
-=0.000087/23
(TOPMED)
AC=0.375998/1883
(1000Genomes)
- HGVS:
NC_000002.12:g.127333278AC[7], NC_000002.12:g.127333278AC[8], NC_000002.12:g.127333278AC[9], NC_000002.12:g.127333278AC[10], NC_000002.12:g.127333278AC[11], NC_000002.12:g.127333278AC[12], NC_000002.12:g.127333278AC[13], NC_000002.12:g.127333278AC[15], NC_000002.12:g.127333278AC[16], NC_000002.12:g.127333278AC[17], NC_000002.12:g.127333278AC[18], NC_000002.12:g.127333278AC[19], NC_000002.12:g.127333278AC[20], NC_000002.12:g.127333278AC[23], NC_000002.11:g.128090854AC[7], NC_000002.11:g.128090854AC[8], NC_000002.11:g.128090854AC[9], NC_000002.11:g.128090854AC[10], NC_000002.11:g.128090854AC[11], NC_000002.11:g.128090854AC[12], NC_000002.11:g.128090854AC[13], NC_000002.11:g.128090854AC[15], NC_000002.11:g.128090854AC[16], NC_000002.11:g.128090854AC[17], NC_000002.11:g.128090854AC[18], NC_000002.11:g.128090854AC[19], NC_000002.11:g.128090854AC[20], NC_000002.11:g.128090854AC[23]
6.
rs1491326102 has merged into rs1341901292 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:127341544
(GRCh38)
2:128099120
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127341530:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:127341530:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:127341530:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:127341530:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:127341530:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:127341530:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127341530:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127341530:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127341530:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127341530:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127341530:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127341530:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127341530:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127341530:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127341530:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127341530:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127341530:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127341530:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127341530:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MAP3K2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000002.12:g.127341544_127341550del, NC_000002.12:g.127341545_127341550del, NC_000002.12:g.127341547_127341550del, NC_000002.12:g.127341549_127341550del, NC_000002.12:g.127341550del, NC_000002.12:g.127341550dup, NC_000002.12:g.127341549_127341550dup, NC_000002.12:g.127341548_127341550dup, NC_000002.12:g.127341547_127341550dup, NC_000002.12:g.127341546_127341550dup, NC_000002.12:g.127341545_127341550dup, NC_000002.12:g.127341544_127341550dup, NC_000002.12:g.127341543_127341550dup, NC_000002.12:g.127341539_127341550dup, NC_000002.12:g.127341538_127341550dup, NC_000002.12:g.127341537_127341550dup, NC_000002.12:g.127341536_127341550dup, NC_000002.12:g.127341535_127341550dup, NC_000002.12:g.127341534_127341550dup, NC_000002.11:g.128099120_128099126del, NC_000002.11:g.128099121_128099126del, NC_000002.11:g.128099123_128099126del, NC_000002.11:g.128099125_128099126del, NC_000002.11:g.128099126del, NC_000002.11:g.128099126dup, NC_000002.11:g.128099125_128099126dup, NC_000002.11:g.128099124_128099126dup, NC_000002.11:g.128099123_128099126dup, NC_000002.11:g.128099122_128099126dup, NC_000002.11:g.128099121_128099126dup, NC_000002.11:g.128099120_128099126dup, NC_000002.11:g.128099119_128099126dup, NC_000002.11:g.128099115_128099126dup, NC_000002.11:g.128099114_128099126dup, NC_000002.11:g.128099113_128099126dup, NC_000002.11:g.128099112_128099126dup, NC_000002.11:g.128099111_128099126dup, NC_000002.11:g.128099110_128099126dup
8.
rs1491225165 has merged into rs11288860 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:127305942
(GRCh38)
2:128063518
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127305930:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:127305930:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:127305930:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:127305930:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:127305930:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:127305930:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:127305930:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:127305930:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MAP3K2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.0794/306
(ALSPAC)
-=0.4353/2180
(1000Genomes)
- HGVS:
NC_000002.12:g.127305942_127305946del, NC_000002.12:g.127305943_127305946del, NC_000002.12:g.127305944_127305946del, NC_000002.12:g.127305945_127305946del, NC_000002.12:g.127305946del, NC_000002.12:g.127305946dup, NC_000002.12:g.127305945_127305946dup, NC_000002.12:g.127305936_127305946dup, NC_000002.11:g.128063518_128063522del, NC_000002.11:g.128063519_128063522del, NC_000002.11:g.128063520_128063522del, NC_000002.11:g.128063521_128063522del, NC_000002.11:g.128063522del, NC_000002.11:g.128063522dup, NC_000002.11:g.128063521_128063522dup, NC_000002.11:g.128063512_128063522dup, NM_006609.5:c.*1644_*1648del, NM_006609.5:c.*1645_*1648del, NM_006609.5:c.*1646_*1648del, NM_006609.5:c.*1647_*1648del, NM_006609.5:c.*1648del, NM_006609.5:c.*1648dup, NM_006609.5:c.*1647_*1648dup, NM_006609.5:c.*1638_*1648dup, NM_006609.4:c.*1644_*1648del, NM_006609.4:c.*1645_*1648del, NM_006609.4:c.*1646_*1648del, NM_006609.4:c.*1647_*1648del, NM_006609.4:c.*1648del, NM_006609.4:c.*1648dup, NM_006609.4:c.*1647_*1648dup, NM_006609.4:c.*1638_*1648dup, NM_001371910.2:c.*1644_*1648del, NM_001371910.2:c.*1645_*1648del, NM_001371910.2:c.*1646_*1648del, NM_001371910.2:c.*1647_*1648del, NM_001371910.2:c.*1648del, NM_001371910.2:c.*1648dup, NM_001371910.2:c.*1647_*1648dup, NM_001371910.2:c.*1638_*1648dup, NM_001371910.1:c.*1644_*1648del, NM_001371910.1:c.*1645_*1648del, NM_001371910.1:c.*1646_*1648del, NM_001371910.1:c.*1647_*1648del, NM_001371910.1:c.*1648del, NM_001371910.1:c.*1648dup, NM_001371910.1:c.*1647_*1648dup, NM_001371910.1:c.*1638_*1648dup, XM_047442989.1:c.*1644_*1648del, XM_047442989.1:c.*1645_*1648del, XM_047442989.1:c.*1646_*1648del, XM_047442989.1:c.*1647_*1648del, XM_047442989.1:c.*1648del, XM_047442989.1:c.*1648dup, XM_047442989.1:c.*1647_*1648dup, XM_047442989.1:c.*1638_*1648dup, XM_047442990.1:c.*1644_*1648del, XM_047442990.1:c.*1645_*1648del, XM_047442990.1:c.*1646_*1648del, XM_047442990.1:c.*1647_*1648del, XM_047442990.1:c.*1648del, XM_047442990.1:c.*1648dup, XM_047442990.1:c.*1647_*1648dup, XM_047442990.1:c.*1638_*1648dup, NM_001371911.1:c.*1644_*1648del, NM_001371911.1:c.*1645_*1648del, NM_001371911.1:c.*1646_*1648del, NM_001371911.1:c.*1647_*1648del, NM_001371911.1:c.*1648del, NM_001371911.1:c.*1648dup, NM_001371911.1:c.*1647_*1648dup, NM_001371911.1:c.*1638_*1648dup, XM_047442991.1:c.*1644_*1648del, XM_047442991.1:c.*1645_*1648del, XM_047442991.1:c.*1646_*1648del, XM_047442991.1:c.*1647_*1648del, XM_047442991.1:c.*1648del, XM_047442991.1:c.*1648dup, XM_047442991.1:c.*1647_*1648dup, XM_047442991.1:c.*1638_*1648dup
9.
rs1491206730 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 2:127344488
(GRCh38)
2:128102064
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127344487:CA:
- Gene:
- MAP3K2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00025/3
(
ALFA)
-=0.00031/15
(GnomAD)
- HGVS:
10.
rs1491181385 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 2:127341529
(GRCh38)
2:128099106
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127341529:G:GG
- Gene:
- MAP3K2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000078/8
(GnomAD)
- HGVS:
11.
rs1491180033 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TAAC
[Show Flanks]
- Chromosome:
- 2:127333275
(GRCh38)
2:128090852
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127333275:TAAC:TAACTAAC
- Gene:
- MAP3K2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TAACTAAC=0.000071/1
(
ALFA)
TAAC=0.000008/1
(GnomAD)
- HGVS:
12.
rs1491131872 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CC
[Show Flanks]
- Chromosome:
- 2:127333278
(GRCh38)
2:128090855
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127333278:C:CCC
- Gene:
- MAP3K2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CCC=0.00017/2
(
ALFA)
CC=0.00006/2
(GnomAD)
- HGVS:
13.
rs1491114969 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 2:127318047
(GRCh38)
2:128075623
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127318046:GC:
- Gene:
- MAP3K2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000019/2
(GnomAD)
- HGVS:
14.
rs1491095736 has merged into rs35382458 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 2:127333292
(GRCh38)
2:128090868
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000002.12:127333277:ACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- MAP3K2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACAC=0./0
(
ALFA)
-=0.000087/23
(TOPMED)
AC=0.375998/1883
(1000Genomes)
- HGVS:
NC_000002.12:g.127333278AC[7], NC_000002.12:g.127333278AC[8], NC_000002.12:g.127333278AC[9], NC_000002.12:g.127333278AC[10], NC_000002.12:g.127333278AC[11], NC_000002.12:g.127333278AC[12], NC_000002.12:g.127333278AC[13], NC_000002.12:g.127333278AC[15], NC_000002.12:g.127333278AC[16], NC_000002.12:g.127333278AC[17], NC_000002.12:g.127333278AC[18], NC_000002.12:g.127333278AC[19], NC_000002.12:g.127333278AC[20], NC_000002.12:g.127333278AC[23], NC_000002.11:g.128090854AC[7], NC_000002.11:g.128090854AC[8], NC_000002.11:g.128090854AC[9], NC_000002.11:g.128090854AC[10], NC_000002.11:g.128090854AC[11], NC_000002.11:g.128090854AC[12], NC_000002.11:g.128090854AC[13], NC_000002.11:g.128090854AC[15], NC_000002.11:g.128090854AC[16], NC_000002.11:g.128090854AC[17], NC_000002.11:g.128090854AC[18], NC_000002.11:g.128090854AC[19], NC_000002.11:g.128090854AC[20], NC_000002.11:g.128090854AC[23]
15.
rs1491014543 has merged into rs56300936 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGTGT>-,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 2:127342399
(GRCh38)
2:128099975
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:127342388:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- MAP3K2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000002.12:g.127342389GT[5], NC_000002.12:g.127342389GT[9], NC_000002.12:g.127342389GT[10], NC_000002.12:g.127342389GT[11], NC_000002.12:g.127342389GT[12], NC_000002.12:g.127342389GT[13], NC_000002.12:g.127342389GT[14], NC_000002.12:g.127342389GT[15], NC_000002.12:g.127342389GT[16], NC_000002.12:g.127342389GT[18], NC_000002.12:g.127342389GT[19], NC_000002.12:g.127342389GT[20], NC_000002.12:g.127342389GT[21], NC_000002.12:g.127342389GT[22], NC_000002.12:g.127342389GT[23], NC_000002.12:g.127342389GT[24], NC_000002.12:g.127342389GT[25], NC_000002.12:g.127342389GT[26], NC_000002.12:g.127342389GT[27], NC_000002.12:g.127342389GT[28], NC_000002.12:g.127342389GT[29], NC_000002.12:g.127342389GT[30], NC_000002.12:g.127342389GT[31], NC_000002.12:g.127342389GT[32], NC_000002.12:g.127342389GT[33], NC_000002.12:g.127342389GT[34], NC_000002.12:g.127342389GT[35], NC_000002.12:g.127342389GT[37], NC_000002.11:g.128099965GT[5], NC_000002.11:g.128099965GT[9], NC_000002.11:g.128099965GT[10], NC_000002.11:g.128099965GT[11], NC_000002.11:g.128099965GT[12], NC_000002.11:g.128099965GT[13], NC_000002.11:g.128099965GT[14], NC_000002.11:g.128099965GT[15], NC_000002.11:g.128099965GT[16], NC_000002.11:g.128099965GT[18], NC_000002.11:g.128099965GT[19], NC_000002.11:g.128099965GT[20], NC_000002.11:g.128099965GT[21], NC_000002.11:g.128099965GT[22], NC_000002.11:g.128099965GT[23], NC_000002.11:g.128099965GT[24], NC_000002.11:g.128099965GT[25], NC_000002.11:g.128099965GT[26], NC_000002.11:g.128099965GT[27], NC_000002.11:g.128099965GT[28], NC_000002.11:g.128099965GT[29], NC_000002.11:g.128099965GT[30], NC_000002.11:g.128099965GT[31], NC_000002.11:g.128099965GT[32], NC_000002.11:g.128099965GT[33], NC_000002.11:g.128099965GT[34], NC_000002.11:g.128099965GT[35], NC_000002.11:g.128099965GT[37]
16.
rs1490959187 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:127338059
(GRCh38)
2:128095635
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127338058:G:A
- Gene:
- MAP3K2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490803929 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:127330105
(GRCh38)
2:128087681
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127330104:G:C
- Gene:
- MAP3K2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
18.
rs1490760747 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 2:127313726
(GRCh38)
2:128071303
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127313726:T:TT
- Gene:
- MAP3K2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490666841 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:127335891
(GRCh38)
2:128093467
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127335890:A:G
- Gene:
- MAP3K2 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1490533035 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 2:127315936
(GRCh38)
2:128073512
(GRCh37)
- Canonical SPDI:
- NC_000002.12:127315935:C:A,NC_000002.12:127315935:C:T
- Gene:
- MAP3K2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS: