Canonical Allele Identifier: CA1030268758

Gene: MSH2

Linked Data

• dbSNP Id: rs1667593729
• gnomAD v3: 2-47483188-C-CTGAATT
• gnomAD v4: 2-47483188-C-CTGAATT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47483190_47483195dup , CM000664.2:g.47483190_47483195dup	GRCh38
NC_000002.11:g.47710329_47710334dup , CM000664.1:g.47710329_47710334dup	GRCh37
NC_000002.10:g.47563833_47563838dup	NCBI36
NG_007110.2:g.85067_85072dup , LRG_218:g.85067_85072dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+2319_2634+2324dup	ENSP00000495641.2:n.2634+2319_2634+2324dup
ENST00000233146.7:c.*241_*246dup MANE Select	ENSP00000233146.2:n.*241_*246dup
ENST00000543555.6:c.*241_*246dup	ENSP00000442697.1:n.*241_*246dup
ENST00000644092.1:c.*934+2319_*934+2324dup	ENSP00000496351.1:n.*934+2319_*934+2324dup
ENST00000644900.1:c.487+2319_487+2324dup
ENST00000645339.1:c.2634+2319_2634+2324dup	ENSP00000496441.1:n.2634+2319_2634+2324dup
ENST00000645506.1:c.2634+2319_2634+2324dup	ENSP00000495455.1:n.2634+2319_2634+2324dup
ENST00000646415.1:c.2634+2319_2634+2324dup	ENSP00000495543.1:n.2634+2319_2634+2324dup
ENST00000233146.6:c.*241_*246dup	ENSP00000233146.2:n.*241_*246dup
ENST00000406134.5:c.2634+2319_2634+2324dup	ENSP00000384199.1:n.2634+2319_2634+2324dup
ENST00000461394.5:n.75+2319_75+2324dup
ENST00000543555.5:c.*241_*246dup	ENSP00000442697.1:n.*241_*246dup
NM_000251.2:c.*241_*246dup , LRG_218t1:c.*241_*246dup	NP_000242.1:n.*241_*246dup
NM_001258281.1:c.*241_*246dup	NP_001245210.1:n.*241_*246dup
XM_005264332.2:c.2634+2319_2634+2324dup	XP_005264389.2:n.2634+2319_2634+2324dup
XM_011532867.1:c.2634+2319_2634+2324dup	XP_011531169.1:n.2634+2319_2634+2324dup
XR_939685.1:n.2706+2319_2706+2324dup
XM_005264332.4:c.2634+2319_2634+2324dup	XP_005264389.2:n.2634+2319_2634+2324dup
XM_011532867.2:c.2634+2319_2634+2324dup	XP_011531169.1:n.2634+2319_2634+2324dup
XR_001738747.2:n.2696+2319_2696+2324dup
XR_939685.2:n.2696+2319_2696+2324dup
NM_000251.3:c.*241_*246dup MANE Select	NP_000242.1:n.*241_*246dup