Canonical Allele Identifier: CA2658943998
Gene: MSH2 HGNC NCBI

Linked Data

dbSNP Id: rs1237482225
gnomAD v4: 2-47403093-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403093C>T , CM000664.2:g.47403093C>T GRCh38
NC_000002.11:g.47630232C>T , CM000664.1:g.47630232C>T GRCh37
NC_000002.10:g.47483736C>T NCBI36
NG_007110.2:g.4970C>T , LRG_218:g.4970C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000543555.6:c.-113C>T ENSP00000442697.1:n.-113C>T
ENST00000233146.6:c.-99C>T ENSP00000233146.2:n.-99C>T
ENST00000454849.5:c.-113C>T ENSP00000411482.1:n.-113C>T
ENST00000543555.5:c.-113C>T ENSP00000442697.1:n.-113C>T
NM_000251.2:c.-99C>T , LRG_218t1:c.-99C>T NP_000242.1:n.-99C>T
NM_001258281.1:c.-113C>T NP_001245210.1:n.-113C>T
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