Canonical Allele Identifier: CA2658943987
Gene: MSH2 HGNC NCBI

Linked Data

dbSNP Id: rs876658524
gnomAD v4: 2-47403091-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403091G>A , CM000664.2:g.47403091G>A GRCh38
NC_000002.11:g.47630230G>A , CM000664.1:g.47630230G>A GRCh37
NC_000002.10:g.47483734G>A NCBI36
NG_007110.2:g.4968G>A , LRG_218:g.4968G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000543555.6:c.-115G>A ENSP00000442697.1:n.-115G>A
ENST00000233146.6:c.-101G>A ENSP00000233146.2:n.-101G>A
ENST00000454849.5:c.-115G>A ENSP00000411482.1:n.-115G>A
ENST00000543555.5:c.-115G>A ENSP00000442697.1:n.-115G>A
NM_000251.2:c.-101G>A , LRG_218t1:c.-101G>A NP_000242.1:n.-101G>A
NM_001258281.1:c.-115G>A NP_001245210.1:n.-115G>A