Canonical Allele Identifier: CA46700072

Gene: MSH2

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
• MyVariant Identifiers: chr2:g.47702192T>A (hg19) ; chr2:g.47475053T>A (hg38)

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