Canonical Allele Identifier: CA1030277104

Gene: MSH2

Linked Data

• gnomAD v3: 2-47430089-TCCG-T
• gnomAD v4: 2-47430089-TCCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47430090_47430092del , CM000664.2:g.47430090_47430092del	GRCh38
NC_000002.11:g.47657229_47657231del , CM000664.1:g.47657229_47657231del	GRCh37
NC_000002.10:g.47510733_47510735del	NCBI36
NG_007110.2:g.31967_31969del , LRG_218:g.31967_31969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1276+149_1276+151del	ENSP00000495641.2:n.1276+149_1276+151del
ENST00000233146.7:c.1276+149_1276+151del MANE Select	ENSP00000233146.2:n.1276+149_1276+151del
ENST00000543555.6:c.1078+149_1078+151del	ENSP00000442697.1:n.1078+149_1078+151del
ENST00000644092.1:c.1276+149_1276+151del	ENSP00000496351.1:n.1276+149_1276+151del
ENST00000645339.1:c.1276+149_1276+151del	ENSP00000496441.1:n.1276+149_1276+151del
ENST00000645506.1:c.1276+149_1276+151del	ENSP00000495455.1:n.1276+149_1276+151del
ENST00000646415.1:c.1276+149_1276+151del	ENSP00000495543.1:n.1276+149_1276+151del
ENST00000233146.6:c.1276+149_1276+151del	ENSP00000233146.2:n.1276+149_1276+151del
ENST00000406134.5:c.1276+149_1276+151del	ENSP00000384199.1:n.1276+149_1276+151del
ENST00000543555.5:c.1078+149_1078+151del	ENSP00000442697.1:n.1078+149_1078+151del
ENST00000610696.4:c.1276+149_1276+151del	ENSP00000483159.1:n.1276+149_1276+151del
ENST00000613514.4:c.1276+149_1276+151del	ENSP00000484137.1:n.1276+149_1276+151del
ENST00000617333.3:c.*42+149_*42+151del	ENSP00000482468.1:n.*42+149_*42+151del
ENST00000617938.4:c.*248+149_*248+151del	ENSP00000481158.1:n.*248+149_*248+151del
ENST00000621359.2:c.1276+149_1276+151del	ENSP00000481416.1:n.1276+149_1276+151del
NM_000251.2:c.1276+149_1276+151del , LRG_218t1:c.1276+149_1276+151del	NP_000242.1:n.1276+149_1276+151del
NM_001258281.1:c.1078+149_1078+151del	NP_001245210.1:n.1078+149_1078+151del
XM_005264332.2:c.1276+149_1276+151del	XP_005264389.2:n.1276+149_1276+151del
XM_011532867.1:c.1276+149_1276+151del	XP_011531169.1:n.1276+149_1276+151del
XR_939685.1:n.1348+149_1348+151del
XM_005264332.4:c.1276+149_1276+151del	XP_005264389.2:n.1276+149_1276+151del
XM_011532867.2:c.1276+149_1276+151del	XP_011531169.1:n.1276+149_1276+151del
XR_001738747.2:n.1338+149_1338+151del
XR_939685.2:n.1338+149_1338+151del
NM_000251.3:c.1276+149_1276+151del MANE Select	NP_000242.1:n.1276+149_1276+151del