Canonical Allele Identifier: CA2658944194
Gene: MSH2 HGNC NCBI

Linked Data

dbSNP Id: rs1672219202
gnomAD v4: 2-47403117-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403117G>T , CM000664.2:g.47403117G>T GRCh38
NC_000002.11:g.47630256G>T , CM000664.1:g.47630256G>T GRCh37
NC_000002.10:g.47483760G>T NCBI36
NG_007110.2:g.4994G>T , LRG_218:g.4994G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000543555.6:c.-89G>T ENSP00000442697.1:n.-89G>T
ENST00000233146.6:c.-75G>T ENSP00000233146.2:n.-75G>T
ENST00000454849.5:c.-89G>T ENSP00000411482.1:n.-89G>T
ENST00000543555.5:c.-89G>T ENSP00000442697.1:n.-89G>T
NM_000251.2:c.-75G>T , LRG_218t1:c.-75G>T NP_000242.1:n.-75G>T
NM_001258281.1:c.-89G>T NP_001245210.1:n.-89G>T
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