Canonical Allele Identifier: CA1139655595

Gene: MSH2

Linked Data

• ClinVar Variation Id: 973431
• ClinVar RCV Id: RCV001250037
• dbSNP Id: rs1667389777

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478331_47478332del , CM000664.2:g.47478331_47478332del	GRCh38
NC_000002.11:g.47705470_47705471del , CM000664.1:g.47705470_47705471del	GRCh37
NC_000002.10:g.47558974_47558975del	NCBI36
NG_007110.2:g.80208_80209del , LRG_218:g.80208_80209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2270_2271del	ENSP00000495641.2:p.Tyr757Ter
ENST00000233146.7:c.2270_2271del MANE Select	ENSP00000233146.2:p.Tyr757Ter
ENST00000543555.6:c.2072_2073del	ENSP00000442697.1:p.Tyr691Ter
ENST00000644092.1:c.*570_*571del	ENSP00000496351.1:n.*570_*571del
ENST00000644900.1:c.123_124del
ENST00000645339.1:c.2270_2271del	ENSP00000496441.1:p.Tyr757Ter
ENST00000645506.1:c.2270_2271del	ENSP00000495455.1:p.Tyr757Ter
ENST00000646415.1:c.2270_2271del	ENSP00000495543.1:p.Tyr757Ter
ENST00000233146.6:c.2270_2271del	ENSP00000233146.2:p.Tyr757Ter
ENST00000406134.5:c.2270_2271del	ENSP00000384199.1:p.Tyr757Ter
ENST00000543555.5:c.2072_2073del	ENSP00000442697.1:p.Tyr691Ter
ENST00000610696.4:c.*666_*667del	ENSP00000483159.1:n.*666_*667del
ENST00000613514.4:c.*810_*811del	ENSP00000484137.1:n.*810_*811del
ENST00000617333.3:c.*1036_*1037del	ENSP00000482468.1:n.*1036_*1037del
ENST00000617938.4:c.*1242_*1243del	ENSP00000481158.1:n.*1242_*1243del
ENST00000621359.2:c.2270_2271del	ENSP00000481416.1:p.Tyr757Ter
NM_000251.2:c.2270_2271del , LRG_218t1:c.2270_2271del	NP_000242.1:p.Tyr757Ter
NM_001258281.1:c.2072_2073del	NP_001245210.1:p.Tyr691Ter
XM_005264332.2:c.2270_2271del	XP_005264389.2:p.Tyr757Ter
XM_011532867.1:c.2270_2271del	XP_011531169.1:p.Tyr757Ter
XR_939685.1:n.2342_2343del
XM_005264332.4:c.2270_2271del	XP_005264389.2:p.Tyr757Ter
XM_011532867.2:c.2270_2271del	XP_011531169.1:p.Tyr757Ter
XR_001738747.2:n.2332_2333del
XR_939685.2:n.2332_2333del
NM_000251.3:c.2270_2271del MANE Select	NP_000242.1:p.Tyr757Ter