Canonical Allele Identifier: CA2658944200
Gene: MSH2 HGNC NCBI

Linked Data

dbSNP Id: rs2103862094
gnomAD v4: 2-47403125-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403125G>A , CM000664.2:g.47403125G>A GRCh38
NC_000002.11:g.47630264G>A , CM000664.1:g.47630264G>A GRCh37
NC_000002.10:g.47483768G>A NCBI36
NG_007110.2:g.5002G>A , LRG_218:g.5002G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000543555.6:c.-81G>A ENSP00000442697.1:n.-81G>A
ENST00000644092.1:c.-67G>A ENSP00000496351.1:n.-67G>A
ENST00000645339.1:c.-67G>A ENSP00000496441.1:n.-67G>A
ENST00000645506.1:c.-67G>A ENSP00000495455.1:n.-67G>A
ENST00000646415.1:c.-67G>A ENSP00000495543.1:n.-67G>A
ENST00000233146.6:c.-67G>A ENSP00000233146.2:n.-67G>A
ENST00000454849.5:c.-81G>A ENSP00000411482.1:n.-81G>A
ENST00000543555.5:c.-81G>A ENSP00000442697.1:n.-81G>A
NM_000251.2:c.-67G>A , LRG_218t1:c.-67G>A NP_000242.1:n.-67G>A
NM_001258281.1:c.-81G>A NP_001245210.1:n.-81G>A
XM_005264332.2:c.-67G>A XP_005264389.2:n.-67G>A
XM_011532867.1:c.-67G>A XP_011531169.1:n.-67G>A
XR_939685.1:n.6G>A