Canonical Allele Identifier: CA2573134973

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1427368
• ClinVar RCV Id: RCV001933671
• dbSNP Id: rs2104178925

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47414392_47414393delinsAT , CM000664.2:g.47414392_47414393delinsAT	GRCh38
NC_000002.11:g.47641531_47641532delinsAT , CM000664.1:g.47641531_47641532delinsAT	GRCh37
NC_000002.10:g.47495035_47495036delinsAT	NCBI36
NG_007110.2:g.16269_16270delinsAT , LRG_218:g.16269_16270delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.916_917delinsAT	ENSP00000495641.2:p.Ala306Ile
ENST00000233146.7:c.916_917delinsAT MANE Select	ENSP00000233146.2:p.Ala306Ile
ENST00000543555.6:c.718_719delinsAT	ENSP00000442697.1:p.Ala240Ile
ENST00000644092.1:c.916_917delinsAT	ENSP00000496351.1:p.Ala306Ile
ENST00000645339.1:c.916_917delinsAT	ENSP00000496441.1:p.Ala306Ile
ENST00000645506.1:c.916_917delinsAT	ENSP00000495455.1:p.Ala306Ile
ENST00000646415.1:c.916_917delinsAT	ENSP00000495543.1:p.Ala306Ile
ENST00000233146.6:c.916_917delinsAT	ENSP00000233146.2:p.Ala306Ile
ENST00000406134.5:c.916_917delinsAT	ENSP00000384199.1:p.Ala306Ile
ENST00000543555.5:c.718_719delinsAT	ENSP00000442697.1:p.Ala240Ile
ENST00000610696.4:c.916_917delinsAT	ENSP00000483159.1:p.Ala306Ile
ENST00000613514.4:c.916_917delinsAT	ENSP00000484137.1:p.Ala306Ile
ENST00000617333.3:c.916_917delinsAT	ENSP00000482468.1:p.Ala306Ile
ENST00000617938.4:c.916_917delinsAT	ENSP00000481158.1:p.Ala306Ile
ENST00000621359.2:c.916_917delinsAT	ENSP00000481416.1:p.Ala306Ile
NM_000251.2:c.916_917delinsAT , LRG_218t1:c.916_917delinsAT	NP_000242.1:p.Ala306Ile
NM_001258281.1:c.718_719delinsAT	NP_001245210.1:p.Ala240Ile
XM_005264332.2:c.916_917delinsAT	XP_005264389.2:p.Ala306Ile
XM_011532867.1:c.916_917delinsAT	XP_011531169.1:p.Ala306Ile
XR_939685.1:n.988_989delinsAT
XM_005264332.4:c.916_917delinsAT	XP_005264389.2:p.Ala306Ile
XM_011532867.2:c.916_917delinsAT	XP_011531169.1:p.Ala306Ile
XR_001738747.2:n.978_979delinsAT
XR_939685.2:n.978_979delinsAT
NM_000251.3:c.916_917delinsAT MANE Select	NP_000242.1:p.Ala306Ile