Canonical Allele Identifier: CA2580066760

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1772594
• ClinVar RCV Id: RCV002392156

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47463079_47463080del , CM000664.2:g.47463079_47463080del	GRCh38
NC_000002.11:g.47690218_47690219del , CM000664.1:g.47690218_47690219del	GRCh37
NC_000002.10:g.47543722_47543723del	NCBI36
NG_007110.2:g.64956_64957del , LRG_218:g.64956_64957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1435_1436del	ENSP00000495641.2:p.Ser479Ter
ENST00000233146.7:c.1435_1436del MANE Select	ENSP00000233146.2:p.Ser479Ter
ENST00000543555.6:c.1237_1238del	ENSP00000442697.1:p.Ser413Ter
ENST00000644092.1:c.1435_1436del	ENSP00000496351.1:p.Ser479Ter
ENST00000645339.1:c.1435_1436del	ENSP00000496441.1:p.Ser479Ter
ENST00000645506.1:c.1435_1436del	ENSP00000495455.1:p.Ser479Ter
ENST00000646415.1:c.1435_1436del	ENSP00000495543.1:p.Ser479Ter
ENST00000233146.6:c.1435_1436del	ENSP00000233146.2:p.Ser479Ter
ENST00000406134.5:c.1435_1436del	ENSP00000384199.1:p.Ser479Ter
ENST00000543555.5:c.1237_1238del	ENSP00000442697.1:p.Ser413Ter
ENST00000610696.4:c.1435_1436del	ENSP00000483159.1:p.Ser479Ter
ENST00000613514.4:c.1435_1436del	ENSP00000484137.1:p.Ser479Ter
ENST00000617333.3:c.*201_*202del	ENSP00000482468.1:n.*201_*202del
ENST00000617938.4:c.*407_*408del	ENSP00000481158.1:n.*407_*408del
ENST00000621359.2:c.1435_1436del	ENSP00000481416.1:p.Ser479Ter
NM_000251.2:c.1435_1436del , LRG_218t1:c.1435_1436del	NP_000242.1:p.Ser479Ter
NM_001258281.1:c.1237_1238del	NP_001245210.1:p.Ser413Ter
XM_005264332.2:c.1435_1436del	XP_005264389.2:p.Ser479Ter
XM_011532867.1:c.1435_1436del	XP_011531169.1:p.Ser479Ter
XR_939685.1:n.1507_1508del
XM_005264332.4:c.1435_1436del	XP_005264389.2:p.Ser479Ter
XM_011532867.2:c.1435_1436del	XP_011531169.1:p.Ser479Ter
XR_001738747.2:n.1497_1498del
XR_939685.2:n.1497_1498del
NM_000251.3:c.1435_1436del MANE Select	NP_000242.1:p.Ser479Ter