Canonical Allele Identifier: CA020596

Gene: MSH2

Linked Data

• ClinVar Variation Id: 141351
• ClinVar RCV Id: RCV000129838 ; RCV000168339 ; RCV000482932 ; RCV003335115 ; RCV003997529 ; RCV004532554
• dbSNP Id: rs587781678
• ExAC: 2:47705639 G / A
• gnomAD v2: 2-47705639-G-A
• gnomAD v3: 2-47478500-G-A
• gnomAD v4: 2-47478500-G-A
• MyVariant Identifiers: chr2:g.47705639G>A (hg19) ; chr2:g.47478500G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478500G>A , CM000664.2:g.47478500G>A	GRCh38
NC_000002.11:g.47705639G>A , CM000664.1:g.47705639G>A	GRCh37
NC_000002.10:g.47559143G>A	NCBI36
NG_007110.2:g.80377G>A , LRG_218:g.80377G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2439G>A	ENSP00000495641.2:p.Met813Ile
ENST00000233146.7:c.2439G>A MANE Select	ENSP00000233146.2:p.Met813Ile
ENST00000543555.6:c.2241G>A	ENSP00000442697.1:p.Met747Ile
ENST00000644092.1:c.*739G>A	ENSP00000496351.1:n.*739G>A
ENST00000644900.1:c.292G>A
ENST00000645339.1:c.2439G>A	ENSP00000496441.1:p.Met813Ile
ENST00000645506.1:c.2439G>A	ENSP00000495455.1:p.Met813Ile
ENST00000646415.1:c.2439G>A	ENSP00000495543.1:p.Met813Ile
ENST00000233146.6:c.2439G>A	ENSP00000233146.2:p.Met813Ile
ENST00000406134.5:c.2439G>A	ENSP00000384199.1:p.Met813Ile
ENST00000543555.5:c.2241G>A	ENSP00000442697.1:p.Met747Ile
ENST00000610696.4:c.*835G>A	ENSP00000483159.1:n.*835G>A
ENST00000613514.4:c.*979G>A	ENSP00000484137.1:n.*979G>A
ENST00000617333.3:c.*1205G>A	ENSP00000482468.1:n.*1205G>A
ENST00000617938.4:c.*1411G>A	ENSP00000481158.1:n.*1411G>A
ENST00000621359.2:c.*5G>A	ENSP00000481416.1:n.*5G>A
NM_000251.2:c.2439G>A , LRG_218t1:c.2439G>A	NP_000242.1:p.Met813Ile
NM_001258281.1:c.2241G>A	NP_001245210.1:p.Met747Ile
XM_005264332.2:c.2439G>A	XP_005264389.2:p.Met813Ile
XM_011532867.1:c.2439G>A	XP_011531169.1:p.Met813Ile
XR_939685.1:n.2511G>A
XM_005264332.4:c.2439G>A	XP_005264389.2:p.Met813Ile
XM_011532867.2:c.2439G>A	XP_011531169.1:p.Met813Ile
XR_001738747.2:n.2501G>A
XR_939685.2:n.2501G>A
NM_000251.3:c.2439G>A MANE Select	NP_000242.1:p.Met813Ile