Canonical Allele Identifier: CA2749802100
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403084T>C , CM000664.2:g.47403084T>C GRCh38
NC_000002.11:g.47630223T>C , CM000664.1:g.47630223T>C GRCh37
NC_000002.10:g.47483727T>C NCBI36
NG_007110.2:g.4961T>C , LRG_218:g.4961T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000543555.6:c.-122T>C ENSP00000442697.1:n.-122T>C
ENST00000233146.6:c.-108T>C ENSP00000233146.2:n.-108T>C
ENST00000454849.5:c.-122T>C ENSP00000411482.1:n.-122T>C
ENST00000543555.5:c.-122T>C ENSP00000442697.1:n.-122T>C
NM_000251.2:c.-108T>C , LRG_218t1:c.-108T>C NP_000242.1:n.-108T>C
NM_001258281.1:c.-122T>C NP_001245210.1:n.-122T>C