Canonical Allele Identifier: CA2658944048
Gene: MSH2 HGNC NCBI

Linked Data

gnomAD v4: 2-47403099-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403099G>T , CM000664.2:g.47403099G>T GRCh38
NC_000002.11:g.47630238G>T , CM000664.1:g.47630238G>T GRCh37
NC_000002.10:g.47483742G>T NCBI36
NG_007110.2:g.4976G>T , LRG_218:g.4976G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000543555.6:c.-107G>T ENSP00000442697.1:n.-107G>T
ENST00000233146.6:c.-93G>T ENSP00000233146.2:n.-93G>T
ENST00000454849.5:c.-107G>T ENSP00000411482.1:n.-107G>T
ENST00000543555.5:c.-107G>T ENSP00000442697.1:n.-107G>T
NM_000251.2:c.-93G>T , LRG_218t1:c.-93G>T NP_000242.1:n.-93G>T
NM_001258281.1:c.-107G>T NP_001245210.1:n.-107G>T