Canonical Allele Identifier: CA46700072
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1332149
ClinVar RCV Id: RCV001804665
dbSNP Id: rs944599279
gnomAD v2: 2-47702192-T-A
gnomAD v4: 2-47475053-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47475053T>A , CM000664.2:g.47475053T>A GRCh38
NC_000002.11:g.47702192T>A , CM000664.1:g.47702192T>A GRCh37
NC_000002.10:g.47555696T>A NCBI36
NG_007110.2:g.76930T>A , LRG_218:g.76930T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.1788T>A ENSP00000495641.2:p.Asn596Lys
ENST00000233146.7:c.1788T>A MANE Select ENSP00000233146.2:p.Asn596Lys
ENST00000543555.6:c.1590T>A ENSP00000442697.1:p.Asn530Lys
ENST00000644092.1:c.*88T>A ENSP00000496351.1:n.*88T>A
ENST00000645339.1:c.1788T>A ENSP00000496441.1:p.Asn596Lys
ENST00000645506.1:c.1788T>A ENSP00000495455.1:p.Asn596Lys
ENST00000646415.1:c.1788T>A ENSP00000495543.1:p.Asn596Lys
ENST00000233146.6:c.1788T>A ENSP00000233146.2:p.Asn596Lys
ENST00000406134.5:c.1788T>A ENSP00000384199.1:p.Asn596Lys
ENST00000543555.5:c.1590T>A ENSP00000442697.1:p.Asn530Lys
ENST00000610696.4:c.*184T>A ENSP00000483159.1:n.*184T>A
ENST00000613514.4:c.*328T>A ENSP00000484137.1:n.*328T>A
ENST00000617333.3:c.*554T>A ENSP00000482468.1:n.*554T>A
ENST00000617938.4:c.*760T>A ENSP00000481158.1:n.*760T>A
ENST00000621359.2:c.1788T>A ENSP00000481416.1:p.Asn596Lys
NM_000251.2:c.1788T>A , LRG_218t1:c.1788T>A NP_000242.1:p.Asn596Lys
NM_001258281.1:c.1590T>A NP_001245210.1:p.Asn530Lys
XM_005264332.2:c.1788T>A XP_005264389.2:p.Asn596Lys
XM_011532867.1:c.1788T>A XP_011531169.1:p.Asn596Lys
XR_939685.1:n.1860T>A
XM_005264332.4:c.1788T>A XP_005264389.2:p.Asn596Lys
XM_011532867.2:c.1788T>A XP_011531169.1:p.Asn596Lys
XR_001738747.2:n.1850T>A
XR_939685.2:n.1850T>A
NM_000251.3:c.1788T>A MANE Select NP_000242.1:p.Asn596Lys