Canonical Allele Identifier: CA46690103

Gene: MSH2

Linked Data

• dbSNP Id: rs753273733
• gnomAD v2: 2-47697666-TTCTCCATGTTGG-T
• gnomAD v3: 2-47470527-TTCTCCATGTTGG-T
• gnomAD v4: 2-47470527-TTCTCCATGTTGG-T
• MyVariant Identifiers: chr2:g.47697667_47697678del (hg19) ; chr2:g.47470528_47470539del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47470530_47470541del , CM000664.2:g.47470530_47470541del	GRCh38
NC_000002.11:g.47697669_47697680del , CM000664.1:g.47697669_47697680del	GRCh37
NC_000002.10:g.47551173_47551184del	NCBI36
NG_007110.2:g.72407_72418del , LRG_218:g.72407_72418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1662-435_1662-424del	ENSP00000495641.2:n.1662-435_1662-424del
ENST00000233146.7:c.1662-435_1662-424del MANE Select	ENSP00000233146.2:n.1662-435_1662-424del
ENST00000543555.6:c.1464-435_1464-424del	ENSP00000442697.1:n.1464-435_1464-424del
ENST00000644092.1:c.1662-458_1662-447del	ENSP00000496351.1:n.1662-458_1662-447del
ENST00000645339.1:c.1662-435_1662-424del	ENSP00000496441.1:n.1662-435_1662-424del
ENST00000645506.1:c.1662-435_1662-424del	ENSP00000495455.1:n.1662-435_1662-424del
ENST00000646415.1:c.1662-435_1662-424del	ENSP00000495543.1:n.1662-435_1662-424del
ENST00000233146.6:c.1662-435_1662-424del	ENSP00000233146.2:n.1662-435_1662-424del
ENST00000406134.5:c.1662-435_1662-424del	ENSP00000384199.1:n.1662-435_1662-424del
ENST00000543555.5:c.1464-435_1464-424del	ENSP00000442697.1:n.1464-435_1464-424del
ENST00000610696.4:c.*58-435_*58-424del	ENSP00000483159.1:n.*58-435_*58-424del
ENST00000613514.4:c.*202-435_*202-424del	ENSP00000484137.1:n.*202-435_*202-424del
ENST00000617333.3:c.*428-435_*428-424del	ENSP00000482468.1:n.*428-435_*428-424del
ENST00000617938.4:c.*634-435_*634-424del	ENSP00000481158.1:n.*634-435_*634-424del
ENST00000621359.2:c.1662-435_1662-424del	ENSP00000481416.1:n.1662-435_1662-424del
NM_000251.2:c.1662-435_1662-424del , LRG_218t1:c.1662-435_1662-424del	NP_000242.1:n.1662-435_1662-424del
NM_001258281.1:c.1464-435_1464-424del	NP_001245210.1:n.1464-435_1464-424del
XM_005264332.2:c.1662-435_1662-424del	XP_005264389.2:n.1662-435_1662-424del
XM_011532867.1:c.1662-435_1662-424del	XP_011531169.1:n.1662-435_1662-424del
XR_939685.1:n.1734-435_1734-424del
XM_005264332.4:c.1662-435_1662-424del	XP_005264389.2:n.1662-435_1662-424del
XM_011532867.2:c.1662-435_1662-424del	XP_011531169.1:n.1662-435_1662-424del
XR_001738747.2:n.1724-435_1724-424del
XR_939685.2:n.1724-435_1724-424del
NM_000251.3:c.1662-435_1662-424del MANE Select	NP_000242.1:n.1662-435_1662-424del