Canonical Allele Identifier: CA020596
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 141351
dbSNP Id: rs587781678
gnomAD v2: 2-47705639-G-A
gnomAD v3: 2-47478500-G-A
gnomAD v4: 2-47478500-G-A

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