Canonical Allele Identifier: CA1649293

Gene: MSH2

Linked Data

• ClinVar Variation Id: 408542
• ClinVar RCV Id: RCV002230812 ; RCV003470450
• dbSNP Id: rs766906365
• ExAC: 2:47707929 TGAG / T
• gnomAD v2: 2-47707929-TGAG-T
• gnomAD v3: 2-47480790-TGAG-T
• gnomAD v4: 2-47480790-TGAG-T
• MyVariant Identifiers: chr2:g.47707933_47707935del (hg19) ; chr2:g.47707930_47707932del (hg19) ; chr2:g.47480794_47480796del (hg38) ; chr2:g.47480791_47480793del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480794_47480796del , CM000664.2:g.47480794_47480796del	GRCh38
NC_000002.11:g.47707933_47707935del , CM000664.1:g.47707933_47707935del	GRCh37
NC_000002.10:g.47561437_47561439del	NCBI36
NG_007110.2:g.82671_82673del , LRG_218:g.82671_82673del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2557_2559del	ENSP00000495641.2:p.Glu853del
ENST00000233146.7:c.2557_2559del MANE Select	ENSP00000233146.2:p.Glu853del
ENST00000543555.6:c.2359_2361del	ENSP00000442697.1:p.Glu787del
ENST00000644092.1:c.*857_*859del	ENSP00000496351.1:n.*857_*859del
ENST00000644900.1:c.410_412del
ENST00000645339.1:c.2557_2559del	ENSP00000496441.1:p.Glu853del
ENST00000645506.1:c.2557_2559del	ENSP00000495455.1:p.Glu853del
ENST00000646415.1:c.2557_2559del	ENSP00000495543.1:p.Glu853del
ENST00000233146.6:c.2557_2559del	ENSP00000233146.2:p.Glu853del
ENST00000406134.5:c.2557_2559del	ENSP00000384199.1:p.Glu853del
ENST00000543555.5:c.2359_2361del	ENSP00000442697.1:p.Glu787del
ENST00000610696.4:c.*953_*955del	ENSP00000483159.1:n.*953_*955del
ENST00000613514.4:c.*1097_*1099del	ENSP00000484137.1:n.*1097_*1099del
ENST00000617333.3:c.*1323_*1325del	ENSP00000482468.1:n.*1323_*1325del
ENST00000617938.4:c.*1529_*1531del	ENSP00000481158.1:n.*1529_*1531del
ENST00000621359.2:c.*123_*125del	ENSP00000481416.1:n.*123_*125del
NM_000251.2:c.2557_2559del , LRG_218t1:c.2557_2559del	NP_000242.1:p.Glu853del
NM_001258281.1:c.2359_2361del	NP_001245210.1:p.Glu787del
XM_005264332.2:c.2557_2559del	XP_005264389.2:p.Glu853del
XM_011532867.1:c.2557_2559del	XP_011531169.1:p.Glu853del
XR_939685.1:n.2629_2631del
XM_005264332.4:c.2557_2559del	XP_005264389.2:p.Glu853del
XM_011532867.2:c.2557_2559del	XP_011531169.1:p.Glu853del
XR_001738747.2:n.2619_2621del
XR_939685.2:n.2619_2621del
NM_000251.3:c.2557_2559del MANE Select	NP_000242.1:p.Glu853del