Canonical Allele Identifier: CA019942
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 90875
dbSNP Id: rs63750790
gnomAD v2: 2-47703564-G-A
gnomAD v3: 2-47476425-G-A
gnomAD v4: 2-47476425-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47476425G>A , CM000664.2:g.47476425G>A GRCh38
NC_000002.11:g.47703564G>A , CM000664.1:g.47703564G>A GRCh37
NC_000002.10:g.47557068G>A NCBI36
NG_007110.2:g.78302G>A , LRG_218:g.78302G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2064G>A ENSP00000495641.2:p.Met688Ile
ENST00000233146.7:c.2064G>A MANE Select ENSP00000233146.2:p.Met688Ile
ENST00000543555.6:c.1866G>A ENSP00000442697.1:p.Met622Ile
ENST00000644092.1:c.*364G>A ENSP00000496351.1:n.*364G>A
ENST00000645339.1:c.2064G>A ENSP00000496441.1:p.Met688Ile
ENST00000645506.1:c.2064G>A ENSP00000495455.1:p.Met688Ile
ENST00000646415.1:c.2064G>A ENSP00000495543.1:p.Met688Ile
ENST00000233146.6:c.2064G>A ENSP00000233146.2:p.Met688Ile
ENST00000406134.5:c.2064G>A ENSP00000384199.1:p.Met688Ile
ENST00000543555.5:c.1866G>A ENSP00000442697.1:p.Met622Ile
ENST00000610696.4:c.*460G>A ENSP00000483159.1:n.*460G>A
ENST00000613514.4:c.*604G>A ENSP00000484137.1:n.*604G>A
ENST00000617333.3:c.*830G>A ENSP00000482468.1:n.*830G>A
ENST00000617938.4:c.*1036G>A ENSP00000481158.1:n.*1036G>A
ENST00000621359.2:c.2064G>A ENSP00000481416.1:p.Met688Ile
NM_000251.2:c.2064G>A , LRG_218t1:c.2064G>A NP_000242.1:p.Met688Ile
NM_001258281.1:c.1866G>A NP_001245210.1:p.Met622Ile
XM_005264332.2:c.2064G>A XP_005264389.2:p.Met688Ile
XM_011532867.1:c.2064G>A XP_011531169.1:p.Met688Ile
XR_939685.1:n.2136G>A
XM_005264332.4:c.2064G>A XP_005264389.2:p.Met688Ile
XM_011532867.2:c.2064G>A XP_011531169.1:p.Met688Ile
XR_001738747.2:n.2126G>A
XR_939685.2:n.2126G>A
NM_000251.3:c.2064G>A MANE Select NP_000242.1:p.Met688Ile