Canonical Allele Identifier: CA532345448

Gene: MSH2

Linked Data

• dbSNP Id: rs878894023
• gnomAD v2: 2-47657196-CTTT-C
• gnomAD v3: 2-47430057-CTTT-C
• gnomAD v4: 2-47430057-CTTT-C
• MyVariant Identifiers: chr2:g.47657197_47657199del (hg19) ; chr2:g.47430058_47430060del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47430071_47430073del , CM000664.2:g.47430071_47430073del	GRCh38
NC_000002.11:g.47657210_47657212del , CM000664.1:g.47657210_47657212del	GRCh37
NC_000002.10:g.47510714_47510716del	NCBI36
NG_007110.2:g.31948_31950del , LRG_218:g.31948_31950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1276+130_1276+132del	ENSP00000495641.2:n.1276+130_1276+132del
ENST00000233146.7:c.1276+130_1276+132del MANE Select	ENSP00000233146.2:n.1276+130_1276+132del
ENST00000543555.6:c.1078+130_1078+132del	ENSP00000442697.1:n.1078+130_1078+132del
ENST00000644092.1:c.1276+130_1276+132del	ENSP00000496351.1:n.1276+130_1276+132del
ENST00000645339.1:c.1276+130_1276+132del	ENSP00000496441.1:n.1276+130_1276+132del
ENST00000645506.1:c.1276+130_1276+132del	ENSP00000495455.1:n.1276+130_1276+132del
ENST00000646415.1:c.1276+130_1276+132del	ENSP00000495543.1:n.1276+130_1276+132del
ENST00000233146.6:c.1276+130_1276+132del	ENSP00000233146.2:n.1276+130_1276+132del
ENST00000406134.5:c.1276+130_1276+132del	ENSP00000384199.1:n.1276+130_1276+132del
ENST00000543555.5:c.1078+130_1078+132del	ENSP00000442697.1:n.1078+130_1078+132del
ENST00000610696.4:c.1276+130_1276+132del	ENSP00000483159.1:n.1276+130_1276+132del
ENST00000613514.4:c.1276+130_1276+132del	ENSP00000484137.1:n.1276+130_1276+132del
ENST00000617333.3:c.*42+130_*42+132del	ENSP00000482468.1:n.*42+130_*42+132del
ENST00000617938.4:c.*248+130_*248+132del	ENSP00000481158.1:n.*248+130_*248+132del
ENST00000621359.2:c.1276+130_1276+132del	ENSP00000481416.1:n.1276+130_1276+132del
NM_000251.2:c.1276+130_1276+132del , LRG_218t1:c.1276+130_1276+132del	NP_000242.1:n.1276+130_1276+132del
NM_001258281.1:c.1078+130_1078+132del	NP_001245210.1:n.1078+130_1078+132del
XM_005264332.2:c.1276+130_1276+132del	XP_005264389.2:n.1276+130_1276+132del
XM_011532867.1:c.1276+130_1276+132del	XP_011531169.1:n.1276+130_1276+132del
XR_939685.1:n.1348+130_1348+132del
XM_005264332.4:c.1276+130_1276+132del	XP_005264389.2:n.1276+130_1276+132del
XM_011532867.2:c.1276+130_1276+132del	XP_011531169.1:n.1276+130_1276+132del
XR_001738747.2:n.1338+130_1338+132del
XR_939685.2:n.1338+130_1338+132del
NM_000251.3:c.1276+130_1276+132del MANE Select	NP_000242.1:n.1276+130_1276+132del