Linked Data
dbSNP Id:
rs1688691932
gnomAD v3:
2-127428712-C-T
gnomAD v4:
2-127428712-C-T
MyVariant Identifiers:
chr2:g.128186288C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428712C>T , CM000664.2:g.127428712C>T | GRCh38 |
| NC_000002.11:g.128186288C>T , CM000664.1:g.128186288C>T | GRCh37 |
| NC_000002.10:g.127902758C>T | NCBI36 |
| NG_016323.1:g.15293C>T , LRG_599:g.15293C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.1152C>T MANE Select | ENSP00000234071.4:p.Asn384= | |
| ENST00000234071.7:c.1152C>T | ENSP00000234071.3:p.Asn384= | |
| ENST00000402125.2:c.476C>T | ||
| ENST00000409048.1:c.1254C>T | ENSP00000386679.1:p.Asn418= | |
| NM_000312.3:c.1152C>T , LRG_599t1:c.1152C>T | NP_000303.1:p.Asn384= | |
| XM_005263715.3:c.1335C>T | XP_005263772.1:p.Asn445= | |
| XM_005263716.3:c.1317C>T | XP_005263773.1:p.Asn439= | |
| XM_005263717.3:c.1215C>T | XP_005263774.1:p.Asn405= | |
| XR_923313.1:n.1332-448G>A | ||
| XM_005263717.4:c.1215C>T | XP_005263774.1:p.Asn405= | |
| XM_017004505.1:c.1395C>T | XP_016859994.1:p.Asn465= | |
| XM_024453002.1:c.1497C>T | XP_024308770.1:p.Asn499= | |
| XM_024453003.1:c.1437C>T | XP_024308771.1:p.Asn479= | |
| XM_024453004.1:c.1335C>T | XP_024308772.1:p.Asn445= | |
| XM_024453005.1:c.1317C>T | XP_024308773.1:p.Asn439= | |
| XM_024453006.1:c.1254C>T | XP_024308774.1:p.Asn418= | |
| XR_001739705.1:n.3607-448G>A | ||
| XR_923313.2:n.4043-448G>A | ||
| NM_000312.4:c.1152C>T MANE Select | NP_000303.1:p.Asn384= | |
| NM_001375602.1:c.1335C>T | NP_001362531.1:p.Asn445= | |
| NM_001375603.1:c.1317C>T | NP_001362532.1:p.Asn439= | |
| NM_001375604.1:c.1215C>T | NP_001362533.1:p.Asn405= | |
| NM_001375605.1:c.1254C>T | NP_001362534.1:p.Asn418= | |
| NM_001375606.1:c.1320C>T | NP_001362535.1:p.Asn440= | |
| NM_001375607.1:c.1338C>T | NP_001362536.1:p.Asn446= | |
| NM_001375608.1:c.1095C>T | NP_001362537.1:p.Asn365= | |
| NM_001375609.1:c.1128C>T | NP_001362538.1:p.Asn376= | |
| NM_001375610.1:c.1146C>T | NP_001362539.1:p.Asn382= | |
| NM_001375611.1:c.1152C>T | NP_001362540.1:p.Asn384= | |
| NM_001375613.1:c.1152C>T | NP_001362542.1:p.Asn384= |