Canonical Allele Identifier: CA2658943967
Gene: MSH2 HGNC NCBI

Linked Data

gnomAD v4: 2-47403081-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403081T>C , CM000664.2:g.47403081T>C GRCh38
NC_000002.11:g.47630220T>C , CM000664.1:g.47630220T>C GRCh37
NC_000002.10:g.47483724T>C NCBI36
NG_007110.2:g.4958T>C , LRG_218:g.4958T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000543555.6:c.-125T>C ENSP00000442697.1:n.-125T>C
ENST00000233146.6:c.-111T>C ENSP00000233146.2:n.-111T>C
ENST00000454849.5:c.-125T>C ENSP00000411482.1:n.-125T>C
ENST00000543555.5:c.-125T>C ENSP00000442697.1:n.-125T>C
NM_000251.2:c.-111T>C , LRG_218t1:c.-111T>C NP_000242.1:n.-111T>C
NM_001258281.1:c.-125T>C NP_001245210.1:n.-125T>C
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