Canonical Allele Identifier: CA083620

Gene: MSH2

Linked Data

• dbSNP Id: rs754120570
• ExAC: 2:47710112 G / GTAA
• gnomAD v2: 2-47710112-G-GTAA
• gnomAD v3: 2-47482973-G-GTAA
• gnomAD v4: 2-47482973-G-GTAA
• MyVariant Identifiers: chr2:g.47710112_47710113insTAA (hg19) ; chr2:g.47482973_47482974insTAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482976_47482978dup , CM000664.2:g.47482976_47482978dup	GRCh38
NC_000002.11:g.47710115_47710117dup , CM000664.1:g.47710115_47710117dup	GRCh37
NC_000002.10:g.47563619_47563621dup	NCBI36
NG_007110.2:g.84853_84855dup , LRG_218:g.84853_84855dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+2105_2634+2107dup	ENSP00000495641.2:n.2634+2105_2634+2107dup
ENST00000233146.7:c.*27_*29dup MANE Select	ENSP00000233146.2:n.*27_*29dup
ENST00000543555.6:c.*27_*29dup	ENSP00000442697.1:n.*27_*29dup
ENST00000644092.1:c.*934+2105_*934+2107dup	ENSP00000496351.1:n.*934+2105_*934+2107dup
ENST00000644900.1:c.487+2105_487+2107dup
ENST00000645339.1:c.2634+2105_2634+2107dup	ENSP00000496441.1:n.2634+2105_2634+2107dup
ENST00000645506.1:c.2634+2105_2634+2107dup	ENSP00000495455.1:n.2634+2105_2634+2107dup
ENST00000646415.1:c.2634+2105_2634+2107dup	ENSP00000495543.1:n.2634+2105_2634+2107dup
ENST00000233146.6:c.*27_*29dup	ENSP00000233146.2:n.*27_*29dup
ENST00000406134.5:c.2634+2105_2634+2107dup	ENSP00000384199.1:n.2634+2105_2634+2107dup
ENST00000461394.5:n.75+2105_75+2107dup
ENST00000543555.5:c.*27_*29dup	ENSP00000442697.1:n.*27_*29dup
ENST00000610696.4:c.*1228_*1230dup	ENSP00000483159.1:n.*1228_*1230dup
ENST00000613514.4:c.*1372_*1374dup	ENSP00000484137.1:n.*1372_*1374dup
ENST00000617333.3:c.*1598_*1600dup	ENSP00000482468.1:n.*1598_*1600dup
ENST00000617938.4:c.*1804_*1806dup	ENSP00000481158.1:n.*1804_*1806dup
ENST00000621359.2:c.*398_*400dup	ENSP00000481416.1:n.*398_*400dup
NM_000251.2:c.*27_*29dup , LRG_218t1:c.*27_*29dup	NP_000242.1:n.*27_*29dup
NM_001258281.1:c.*27_*29dup	NP_001245210.1:n.*27_*29dup
XM_005264332.2:c.2634+2105_2634+2107dup	XP_005264389.2:n.2634+2105_2634+2107dup
XM_011532867.1:c.2634+2105_2634+2107dup	XP_011531169.1:n.2634+2105_2634+2107dup
XR_939685.1:n.2706+2105_2706+2107dup
XM_005264332.4:c.2634+2105_2634+2107dup	XP_005264389.2:n.2634+2105_2634+2107dup
XM_011532867.2:c.2634+2105_2634+2107dup	XP_011531169.1:n.2634+2105_2634+2107dup
XR_001738747.2:n.2696+2105_2696+2107dup
XR_939685.2:n.2696+2105_2696+2107dup
NM_000251.3:c.*27_*29dup MANE Select	NP_000242.1:n.*27_*29dup