Canonical Allele Identifier: CA2658943942

Gene: MSH2

Linked Data

• gnomAD v4: 2-47403070-CTGATTGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403073_47403080del , CM000664.2:g.47403073_47403080del	GRCh38
NC_000002.11:g.47630212_47630219del , CM000664.1:g.47630212_47630219del	GRCh37
NC_000002.10:g.47483716_47483723del	NCBI36
NG_007110.2:g.4950_4957del , LRG_218:g.4950_4957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543555.6:c.-133_-126del	ENSP00000442697.1:n.-133_-126del
ENST00000233146.6:c.-119_-112del	ENSP00000233146.2:n.-119_-112del
ENST00000454849.5:c.-133_-126del	ENSP00000411482.1:n.-133_-126del
ENST00000543555.5:c.-133_-126del	ENSP00000442697.1:n.-133_-126del
NM_000251.2:c.-119_-112del , LRG_218t1:c.-119_-112del	NP_000242.1:n.-119_-112del
NM_001258281.1:c.-133_-126del	NP_001245210.1:n.-133_-126del