Canonical Allele Identifier: CA197552

Gene: MSH2

Linked Data

• ClinVar Variation Id: 187400
• ClinVar RCV Id: RCV000167124 ; RCV001385381 ; RCV003454419
• dbSNP Id: rs786203704
• MyVariant Identifiers: chr2:g.47702207dupG (hg19) ; chr2:g.47475068dupG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475068dup , CM000664.2:g.47475068dup	GRCh38
NC_000002.11:g.47702207dup , CM000664.1:g.47702207dup	GRCh37
NC_000002.10:g.47555711dup	NCBI36
NG_007110.2:g.76945dup , LRG_218:g.76945dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1803dup	ENSP00000495641.2:p.Leu602AlafsTer?
ENST00000233146.7:c.1803dup MANE Select	ENSP00000233146.2:p.Leu602AlafsTer?
ENST00000543555.6:c.1605dup	ENSP00000442697.1:p.Leu536AlafsTer?
ENST00000644092.1:c.*103dup	ENSP00000496351.1:n.*103dup
ENST00000645339.1:c.1803dup	ENSP00000496441.1:p.Leu602AlafsTer?
ENST00000645506.1:c.1803dup	ENSP00000495455.1:p.Leu602AlafsTer?
ENST00000646415.1:c.1803dup	ENSP00000495543.1:p.Leu602AlafsTer?
ENST00000233146.6:c.1803dup	ENSP00000233146.2:p.Leu602AlafsTer?
ENST00000406134.5:c.1803dup	ENSP00000384199.1:p.Leu602AlafsTer?
ENST00000543555.5:c.1605dup	ENSP00000442697.1:p.Leu536AlafsTer?
ENST00000610696.4:c.*199dup	ENSP00000483159.1:n.*199dup
ENST00000613514.4:c.*343dup	ENSP00000484137.1:n.*343dup
ENST00000617333.3:c.*569dup	ENSP00000482468.1:n.*569dup
ENST00000617938.4:c.*775dup	ENSP00000481158.1:n.*775dup
ENST00000621359.2:c.1803dup	ENSP00000481416.1:p.Leu602AlafsTer?
NM_000251.2:c.1803dup , LRG_218t1:c.1803dup	NP_000242.1:p.Leu602AlafsTer?
NM_001258281.1:c.1605dup	NP_001245210.1:p.Leu536AlafsTer?
XM_005264332.2:c.1803dup	XP_005264389.2:p.Leu602AlafsTer?
XM_011532867.1:c.1803dup	XP_011531169.1:p.Leu602AlafsTer?
XR_939685.1:n.1875dup
XM_005264332.4:c.1803dup	XP_005264389.2:p.Leu602AlafsTer?
XM_011532867.2:c.1803dup	XP_011531169.1:p.Leu602AlafsTer?
XR_001738747.2:n.1865dup
XR_939685.2:n.1865dup
NM_000251.3:c.1803dup MANE Select	NP_000242.1:p.Leu602AlafsTer?