Canonical Allele Identifier: CA2658943948
Gene: MSH2 HGNC NCBI

Linked Data

gnomAD v4: 2-47403075-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403075T>G , CM000664.2:g.47403075T>G GRCh38
NC_000002.11:g.47630214T>G , CM000664.1:g.47630214T>G GRCh37
NC_000002.10:g.47483718T>G NCBI36
NG_007110.2:g.4952T>G , LRG_218:g.4952T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000543555.6:c.-131T>G ENSP00000442697.1:n.-131T>G
ENST00000233146.6:c.-117T>G ENSP00000233146.2:n.-117T>G
ENST00000454849.5:c.-131T>G ENSP00000411482.1:n.-131T>G
ENST00000543555.5:c.-131T>G ENSP00000442697.1:n.-131T>G
NM_000251.2:c.-117T>G , LRG_218t1:c.-117T>G NP_000242.1:n.-117T>G
NM_001258281.1:c.-131T>G NP_001245210.1:n.-131T>G
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