Links from Protein
Items: 1 to 20 of 536
1.
rs1490454763 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:6861310
(GRCh38)
2:7001441
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6861309:C:T
- Gene:
- CMPK2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000002.12:g.6861310C>T, NC_000002.11:g.7001441C>T, NM_207315.4:c.866G>A, NM_207315.3:c.866G>A, NR_046236.2:n.401G>A, NR_046236.1:n.401G>A, NM_001256477.1:c.866G>A, NM_001256478.1:c.866G>A, NP_997198.2:p.Gly289Asp, NP_001243406.1:p.Gly289Asp, NP_001243407.1:p.Gly289Asp
2.
rs1489995055 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 2:6865132
(GRCh38)
2:7005263
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6865131:A:
- Gene:
- RSAD2 (Varview), CMPK2 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,upstream_transcript_variant,frameshift_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
-=0.000009/1
(GnomAD_exomes)
- HGVS:
3.
rs1488280913 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:6865084
(GRCh38)
2:7005215
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6865083:G:A,NC_000002.12:6865083:G:C
- Gene:
- RSAD2 (Varview), CMPK2 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
NC_000002.12:g.6865084G>A, NC_000002.12:g.6865084G>C, NC_000002.11:g.7005215G>A, NC_000002.11:g.7005215G>C, NM_207315.4:c.613C>T, NM_207315.4:c.613C>G, NM_207315.3:c.613C>T, NM_207315.3:c.613C>G, NM_001256477.1:c.613C>T, NM_001256477.1:c.613C>G, NM_001256478.1:c.613C>T, NM_001256478.1:c.613C>G, NP_997198.2:p.Pro205Ser, NP_997198.2:p.Pro205Ala, NP_001243406.1:p.Pro205Ser, NP_001243406.1:p.Pro205Ala, NP_001243407.1:p.Pro205Ser, NP_001243407.1:p.Pro205Ala
4.
rs1487306257 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:6865312
(GRCh38)
2:7005443
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6865311:G:A,NC_000002.12:6865311:G:C
- Gene:
- RSAD2 (Varview), CMPK2 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,upstream_transcript_variant,stop_gained,2KB_upstream_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
NC_000002.12:g.6865312G>A, NC_000002.12:g.6865312G>C, NC_000002.11:g.7005443G>A, NC_000002.11:g.7005443G>C, NM_207315.4:c.385C>T, NM_207315.4:c.385C>G, NM_207315.3:c.385C>T, NM_207315.3:c.385C>G, NM_001256477.1:c.385C>T, NM_001256477.1:c.385C>G, NM_001256478.1:c.385C>T, NM_001256478.1:c.385C>G, NP_997198.2:p.Gln129Ter, NP_997198.2:p.Gln129Glu, NP_001243406.1:p.Gln129Ter, NP_001243406.1:p.Gln129Glu, NP_001243407.1:p.Gln129Ter, NP_001243407.1:p.Gln129Glu
5.
rs1485742827 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CGCAGCCGGCGTCCGGGGTCACGGGCAC>-
[Show Flanks]
- Chromosome:
- 2:6865441
(GRCh38)
2:7005572
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6865439:CCGCAGCCGGCGTCCGGGGTCACGGGCAC:C
- Gene:
- RSAD2 (Varview), CMPK2 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,upstream_transcript_variant,frameshift_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
6.
rs1482441756 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:6865420
(GRCh38)
2:7005551
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6865419:G:A
- Gene:
- RSAD2 (Varview), CMPK2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
7.
rs1481849646 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:6863537
(GRCh38)
2:7003668
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6863536:C:G
- Gene:
- CMPK2 (Varview)
- Functional Consequence:
- synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
8.
rs1480690012 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:6863470
(GRCh38)
2:7003601
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6863469:C:T
- Gene:
- CMPK2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000002.12:g.6863470C>T, NC_000002.11:g.7003601C>T, NM_207315.4:c.784G>A, NM_207315.3:c.784G>A, NR_046236.2:n.319G>A, NR_046236.1:n.319G>A, NM_001256477.1:c.784G>A, NM_001256478.1:c.784G>A, NP_997198.2:p.Ala262Thr, NP_001243406.1:p.Ala262Thr, NP_001243407.1:p.Ala262Thr
9.
rs1480638507 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:6865538
(GRCh38)
2:7005669
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6865537:G:A
- Gene:
- RSAD2 (Varview), CMPK2 (Varview)
- Functional Consequence:
- synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1479869699 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:6851529
(GRCh38)
2:6991660
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6851528:A:G
- Gene:
- CMPK2 (Varview)
- Functional Consequence:
- synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
12.
rs1479471888 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:6865100
(GRCh38)
2:7005231
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6865099:C:A
- Gene:
- RSAD2 (Varview), CMPK2 (Varview)
- Functional Consequence:
- synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
13.
rs1474425992 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:6861323
(GRCh38)
2:7001454
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6861322:G:T
- Gene:
- CMPK2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000002.12:g.6861323G>T, NC_000002.11:g.7001454G>T, NM_207315.4:c.853C>A, NM_207315.3:c.853C>A, NR_046236.2:n.388C>A, NR_046236.1:n.388C>A, NM_001256477.1:c.853C>A, NM_001256478.1:c.853C>A, NP_997198.2:p.Pro285Thr, NP_001243406.1:p.Pro285Thr, NP_001243407.1:p.Pro285Thr
14.
rs1473843093 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:6865444
(GRCh38)
2:7005575
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6865443:A:G
- Gene:
- RSAD2 (Varview), CMPK2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1473281114 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:6861221
(GRCh38)
2:7001352
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6861220:C:T
- Gene:
- CMPK2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(GnomAD_exomes)
T=0.000008/2
(TOPMED)
- HGVS:
NC_000002.12:g.6861221C>T, NC_000002.11:g.7001352C>T, NM_207315.4:c.955G>A, NM_207315.3:c.955G>A, NR_046236.2:n.490G>A, NR_046236.1:n.490G>A, NM_001256477.1:c.955G>A, NM_001256478.1:c.955G>A, NP_997198.2:p.Ala319Thr, NP_001243406.1:p.Ala319Thr, NP_001243407.1:p.Ala319Thr
16.
rs1472941797 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:6865489
(GRCh38)
2:7005620
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6865488:C:T
- Gene:
- RSAD2 (Varview), CMPK2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.000038/10
(TOPMED)
- HGVS:
17.
rs1472463848 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 2:6865211
(GRCh38)
2:7005342
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6865210:G:A,NC_000002.12:6865210:G:T
- Gene:
- RSAD2 (Varview), CMPK2 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000094/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000002.12:g.6865211G>A, NC_000002.12:g.6865211G>T, NC_000002.11:g.7005342G>A, NC_000002.11:g.7005342G>T, NM_207315.4:c.486C>T, NM_207315.4:c.486C>A, NM_207315.3:c.486C>T, NM_207315.3:c.486C>A, NM_001256477.1:c.486C>T, NM_001256477.1:c.486C>A, NM_001256478.1:c.486C>T, NM_001256478.1:c.486C>A
18.
rs1472446068 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:6851507
(GRCh38)
2:6991638
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6851506:C:T
- Gene:
- CMPK2 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1470643664 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:6861341
(GRCh38)
2:7001472
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6861340:C:T
- Gene:
- CMPK2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,non_coding_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000004/1
(GnomAD_exomes)
T=0.000035/1
(TOMMO)
T=0.000546/1
(Korea1K)
- HGVS:
NC_000002.12:g.6861341C>T, NC_000002.11:g.7001472C>T, NM_207315.4:c.835G>A, NM_207315.3:c.835G>A, NR_046236.2:n.370G>A, NR_046236.1:n.370G>A, NM_001256477.1:c.835G>A, NM_001256478.1:c.835G>A, NP_997198.2:p.Val279Ile, NP_001243406.1:p.Val279Ile, NP_001243407.1:p.Val279Ile
20.
rs1469426245 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:6849861
(GRCh38)
2:6989992
(GRCh37)
- Canonical SPDI:
- NC_000002.12:6849860:T:A
- Gene:
- CMPK2 (Varview)
- Functional Consequence:
- missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS: