Canonical Allele Identifier: CA16617597

Gene: MSH2

Linked Data

• ClinVar Variation Id: 418821
• ClinVar RCV Id: RCV000478538
• dbSNP Id: rs1064793455
• MyVariant Identifiers: chr2:g.47702350_47702364del (hg19) ; chr2:g.47475211_47475225del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475211_47475225del , CM000664.2:g.47475211_47475225del	GRCh38
NC_000002.11:g.47702350_47702364del , CM000664.1:g.47702350_47702364del	GRCh37
NC_000002.10:g.47555854_47555868del	NCBI36
NG_007110.2:g.77088_77102del , LRG_218:g.77088_77102del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1946_1960del	ENSP00000495641.2:p.Ala649_Asn653del
ENST00000233146.7:c.1946_1960del MANE Select	ENSP00000233146.2:p.Ala649_Asn653del
ENST00000543555.6:c.1748_1762del	ENSP00000442697.1:p.Ala583_Asn587del
ENST00000644092.1:c.*246_*260del	ENSP00000496351.1:n.*246_*260del
ENST00000645339.1:c.1946_1960del	ENSP00000496441.1:p.Ala649_Asn653del
ENST00000645506.1:c.1946_1960del	ENSP00000495455.1:p.Ala649_Asn653del
ENST00000646415.1:c.1946_1960del	ENSP00000495543.1:p.Ala649_Asn653del
ENST00000233146.6:c.1946_1960del	ENSP00000233146.2:p.Ala649_Asn653del
ENST00000406134.5:c.1946_1960del	ENSP00000384199.1:p.Ala649_Asn653del
ENST00000543555.5:c.1748_1762del	ENSP00000442697.1:p.Ala583_Asn587del
ENST00000610696.4:c.*342_*356del	ENSP00000483159.1:n.*342_*356del
ENST00000613514.4:c.*486_*500del	ENSP00000484137.1:n.*486_*500del
ENST00000617333.3:c.*712_*726del	ENSP00000482468.1:n.*712_*726del
ENST00000617938.4:c.*918_*932del	ENSP00000481158.1:n.*918_*932del
ENST00000621359.2:c.1946_1960del	ENSP00000481416.1:p.Ala649_Asn653del
NM_000251.2:c.1946_1960del , LRG_218t1:c.1946_1960del	NP_000242.1:p.Ala649_Asn653del
NM_001258281.1:c.1748_1762del	NP_001245210.1:p.Ala583_Asn587del
XM_005264332.2:c.1946_1960del	XP_005264389.2:p.Ala649_Asn653del
XM_011532867.1:c.1946_1960del	XP_011531169.1:p.Ala649_Asn653del
XR_939685.1:n.2018_2032del
XM_005264332.4:c.1946_1960del	XP_005264389.2:p.Ala649_Asn653del
XM_011532867.2:c.1946_1960del	XP_011531169.1:p.Ala649_Asn653del
XR_001738747.2:n.2008_2022del
XR_939685.2:n.2008_2022del
NM_000251.3:c.1946_1960del MANE Select	NP_000242.1:p.Ala649_Asn653del