SNP Links for Protein (Select 518828583) - SNP

Links from Protein

Items: 1 to 20 of 320

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Select item 14904980751.

rs1490498075 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:147927105 (GRCh38)
2:148684674 (GRCh37)
Canonical SPDI:: NC_000002.12:147927104:T:C
Gene:: ACVR2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.147927105T>C, NC_000002.11:g.148684674T>C, NM_001616.5:c.1373T>C, NM_001616.4:c.1373T>C, NM_001278579.2:c.1373T>C, NM_001278579.1:c.1373T>C, NM_001278580.2:c.1049T>C, NM_001278580.1:c.1049T>C, XM_047446292.1:c.1049T>C, NP_001607.1:p.Ile458Thr, NP_001265508.1:p.Ile458Thr, NP_001265509.1:p.Ile350Thr, XP_047302248.1:p.Ile350Thr

Select item 14894994692.

rs1489499469 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:147915329 (GRCh38)
2:148672898 (GRCh37)
Canonical SPDI:: NC_000002.12:147915328:A:G
Gene:: ACVR2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000062/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.147915329A>G, NC_000002.11:g.148672898A>G, NM_001616.5:c.667A>G, NM_001616.4:c.667A>G, NM_001278579.2:c.667A>G, NM_001278579.1:c.667A>G, NM_001278580.2:c.343A>G, NM_001278580.1:c.343A>G, XM_047446292.1:c.343A>G, NP_001607.1:p.Ile223Val, NP_001265508.1:p.Ile223Val, NP_001265509.1:p.Ile115Val, XP_047302248.1:p.Ile115Val

Select item 14869546283.

rs1486954628 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:147927130 (GRCh38)
2:148684699 (GRCh37)
Canonical SPDI:: NC_000002.12:147927129:A:G
Gene:: ACVR2A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.147927130A>G, NC_000002.11:g.148684699A>G, NM_001616.5:c.1398A>G, NM_001616.4:c.1398A>G, NM_001278579.2:c.1398A>G, NM_001278579.1:c.1398A>G, NM_001278580.2:c.1074A>G, NM_001278580.1:c.1074A>G, XM_047446292.1:c.1074A>G

Select item 14851204884.

rs1485120488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:147899887 (GRCh38)
2:148657456 (GRCh37)
Canonical SPDI:: NC_000002.12:147899886:G:A
Gene:: ACVR2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.147899887G>A, NC_000002.11:g.148657456G>A, NM_001616.5:c.517G>A, NM_001616.4:c.517G>A, NM_001278579.2:c.517G>A, NM_001278579.1:c.517G>A, NM_001278580.2:c.193G>A, NM_001278580.1:c.193G>A, XM_047446292.1:c.193G>A, NP_001607.1:p.Val173Ile, NP_001265508.1:p.Val173Ile, NP_001265509.1:p.Val65Ile, XP_047302248.1:p.Val65Ile

Select item 14848583445.

rs1484858344 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:147915250 (GRCh38)
2:148672819 (GRCh37)
Canonical SPDI:: NC_000002.12:147915249:A:G
Gene:: ACVR2A (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)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.147915250A>G, NC_000002.11:g.148672819A>G, NM_001616.5:c.588A>G, NM_001616.4:c.588A>G, NM_001278579.2:c.588A>G, NM_001278579.1:c.588A>G, NM_001278580.2:c.264A>G, NM_001278580.1:c.264A>G, XM_047446292.1:c.264A>G

Select item 14844988036.

rs1484498803 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:147923017 (GRCh38)
2:148680586 (GRCh37)
Canonical SPDI:: NC_000002.12:147923016:T:C
Gene:: ACVR2A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.147923017T>C, NC_000002.11:g.148680586T>C, NM_001616.5:c.1122T>C, NM_001616.4:c.1122T>C, NM_001278579.2:c.1122T>C, NM_001278579.1:c.1122T>C, NM_001278580.2:c.798T>C, NM_001278580.1:c.798T>C, XM_047446292.1:c.798T>C

Select item 14839156667.

rs1483915666 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:147899532 (GRCh38)
2:148657101 (GRCh37)
Canonical SPDI:: NC_000002.12:147899531:A:G
Gene:: ACVR2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.147899532A>G, NC_000002.11:g.148657101A>G, NM_001616.5:c.338A>G, NM_001616.4:c.338A>G, NM_001278579.2:c.338A>G, NM_001278579.1:c.338A>G, NM_001278580.2:c.14A>G, NM_001278580.1:c.14A>G, XM_047446292.1:c.14A>G, NP_001607.1:p.Lys113Arg, NP_001265508.1:p.Lys113Arg, NP_001265509.1:p.Lys5Arg, XP_047302248.1:p.Lys5Arg

Select item 14809908488.

rs1480990848 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:147923059 (GRCh38)
2:148680628 (GRCh37)
Canonical SPDI:: NC_000002.12:147923058:T:C
Gene:: ACVR2A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.147923059T>C, NC_000002.11:g.148680628T>C, NM_001616.5:c.1164T>C, NM_001616.4:c.1164T>C, NM_001278579.2:c.1164T>C, NM_001278579.1:c.1164T>C, NM_001278580.2:c.840T>C, NM_001278580.1:c.840T>C, XM_047446292.1:c.840T>C

Select item 14787207239.

rs1478720723 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:147896462 (GRCh38)
2:148654031 (GRCh37)
Canonical SPDI:: NC_000002.12:147896461:A:G
Gene:: ACVR2A (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.147896462A>G, NC_000002.11:g.148654031A>G, NM_001616.5:c.217A>G, NM_001616.4:c.217A>G, NM_001278579.2:c.217A>G, NM_001278579.1:c.217A>G, NM_001278580.2:c.-108A>G, NM_001278580.1:c.-108A>G, XM_047446292.1:c.-108A>G, NP_001607.1:p.Ile73Val, NP_001265508.1:p.Ile73Val

Select item 147752712910.

rs1477527129 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:147899552 (GRCh38)
2:148657121 (GRCh37)
Canonical SPDI:: NC_000002.12:147899551:A:G
Gene:: ACVR2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.147899552A>G, NC_000002.11:g.148657121A>G, NM_001616.5:c.358A>G, NM_001616.4:c.358A>G, NM_001278579.2:c.358A>G, NM_001278579.1:c.358A>G, NM_001278580.2:c.34A>G, NM_001278580.1:c.34A>G, XM_047446292.1:c.34A>G, NP_001607.1:p.Met120Val, NP_001265508.1:p.Met120Val, NP_001265509.1:p.Met12Val, XP_047302248.1:p.Met12Val

Select item 147500433811.

rs1475004338 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:147926080 (GRCh38)
2:148683649 (GRCh37)
Canonical SPDI:: NC_000002.12:147926079:T:C
Gene:: ACVR2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.147926080T>C, NC_000002.11:g.148683649T>C, NM_001616.5:c.1266T>C, NM_001616.4:c.1266T>C, NM_001278579.2:c.1266T>C, NM_001278579.1:c.1266T>C, NM_001278580.2:c.942T>C, NM_001278580.1:c.942T>C, XM_047446292.1:c.942T>C

Select item 147490743612.

rs1474907436 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:147920311 (GRCh38)
2:148677880 (GRCh37)
Canonical SPDI:: NC_000002.12:147920310:G:A
Gene:: ACVR2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.147920311G>A, NC_000002.11:g.148677880G>A, NM_001616.5:c.1044G>A, NM_001616.4:c.1044G>A, NM_001278579.2:c.1044G>A, NM_001278579.1:c.1044G>A, NM_001278580.2:c.720G>A, NM_001278580.1:c.720G>A, XM_047446292.1:c.720G>A

Select item 145388382813.

rs1453883828 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:147896330 (GRCh38)
2:148653899 (GRCh37)
Canonical SPDI:: NC_000002.12:147896329:G:C
Gene:: ACVR2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.147896330G>C, NC_000002.11:g.148653899G>C, NM_001616.5:c.85G>C, NM_001616.4:c.85G>C, NM_001278579.2:c.85G>C, NM_001278579.1:c.85G>C, XM_047446292.1:c.-240G>C, NP_001607.1:p.Glu29Gln, NP_001265508.1:p.Glu29Gln

Select item 145130527614.

rs1451305276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:147896465 (GRCh38)
2:148654034 (GRCh37)
Canonical SPDI:: NC_000002.12:147896464:G:C
Gene:: ACVR2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.147896465G>C, NC_000002.11:g.148654034G>C, NM_001616.5:c.220G>C, NM_001616.4:c.220G>C, NM_001278579.2:c.220G>C, NM_001278579.1:c.220G>C, NM_001278580.2:c.-105G>C, NM_001278580.1:c.-105G>C, XM_047446292.1:c.-105G>C, NP_001607.1:p.Val74Leu, NP_001265508.1:p.Val74Leu

Select item 144470259715.

rs1444702597 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:147927082 (GRCh38)
2:148684651 (GRCh37)
Canonical SPDI:: NC_000002.12:147927081:A:T
Gene:: ACVR2A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.147927082A>T, NC_000002.11:g.148684651A>T, NM_001616.5:c.1350A>T, NM_001616.4:c.1350A>T, NM_001278579.2:c.1350A>T, NM_001278579.1:c.1350A>T, NM_001278580.2:c.1026A>T, NM_001278580.1:c.1026A>T, XM_047446292.1:c.1026A>T

Select item 143949817316.

rs1439498173 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:147927186 (GRCh38)
2:148684755 (GRCh37)
Canonical SPDI:: NC_000002.12:147927185:T:G
Gene:: ACVR2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.147927186T>G, NC_000002.11:g.148684755T>G, NM_001616.5:c.1454T>G, NM_001616.4:c.1454T>G, NM_001278579.2:c.1454T>G, NM_001278579.1:c.1454T>G, NM_001278580.2:c.1130T>G, NM_001278580.1:c.1130T>G, XM_047446292.1:c.1130T>G, NP_001607.1:p.Leu485Arg, NP_001265508.1:p.Leu485Arg, NP_001265509.1:p.Leu377Arg, XP_047302248.1:p.Leu377Arg

Select item 143902100717.

rs1439021007 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:147927158 (GRCh38)
2:148684727 (GRCh37)
Canonical SPDI:: NC_000002.12:147927157:G:C
Gene:: ACVR2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.147927158G>C, NC_000002.11:g.148684727G>C, NM_001616.5:c.1426G>C, NM_001616.4:c.1426G>C, NM_001278579.2:c.1426G>C, NM_001278579.1:c.1426G>C, NM_001278580.2:c.1102G>C, NM_001278580.1:c.1102G>C, XM_047446292.1:c.1102G>C, NP_001607.1:p.Gly476Arg, NP_001265508.1:p.Gly476Arg, NP_001265509.1:p.Gly368Arg, XP_047302248.1:p.Gly368Arg

Select item 143884485618.

rs1438844856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:147915310 (GRCh38)
2:148672879 (GRCh37)
Canonical SPDI:: NC_000002.12:147915309:G:A
Gene:: ACVR2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.147915310G>A, NC_000002.11:g.148672879G>A, NM_001616.5:c.648G>A, NM_001616.4:c.648G>A, NM_001278579.2:c.648G>A, NM_001278579.1:c.648G>A, NM_001278580.2:c.324G>A, NM_001278580.1:c.324G>A, XM_047446292.1:c.324G>A

Select item 143666942419.

rs1436669424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:147896404 (GRCh38)
2:148653973 (GRCh37)
Canonical SPDI:: NC_000002.12:147896403:C:A,NC_000002.12:147896403:C:T
Gene:: ACVR2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant,missense_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.147896404C>A, NC_000002.12:g.147896404C>T, NC_000002.11:g.148653973C>A, NC_000002.11:g.148653973C>T, NM_001616.5:c.159C>A, NM_001616.5:c.159C>T, NM_001616.4:c.159C>A, NM_001616.4:c.159C>T, NM_001278579.2:c.159C>A, NM_001278579.2:c.159C>T, NM_001278579.1:c.159C>A, NM_001278579.1:c.159C>T, NM_001278580.2:c.-166C>A, NM_001278580.2:c.-166C>T, NM_001278580.1:c.-166C>A, NM_001278580.1:c.-166C>T, XM_047446292.1:c.-166C>A, XM_047446292.1:c.-166C>T, NP_001607.1:p.Asp53Glu, NP_001265508.1:p.Asp53Glu

Select item 143564079320.

rs1435640793 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:147915199 (GRCh38)
2:148672768 (GRCh37)
Canonical SPDI:: NC_000002.12:147915198:A:G
Gene:: ACVR2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.147915199A>G, NC_000002.11:g.148672768A>G, NM_001616.5:c.537A>G, NM_001616.4:c.537A>G, NM_001278579.2:c.537A>G, NM_001278579.1:c.537A>G, NM_001278580.2:c.213A>G, NM_001278580.1:c.213A>G, XM_047446292.1:c.213A>G

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