Canonical Allele Identifier: CA2695200777

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2673346
• ClinVar RCV Id: RCV003455971

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47412530_47412531del , CM000664.2:g.47412530_47412531del	GRCh38
NC_000002.11:g.47639669_47639670del , CM000664.1:g.47639669_47639670del	GRCh37
NC_000002.10:g.47493173_47493174del	NCBI36
NG_007110.2:g.14407_14408del , LRG_218:g.14407_14408del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.762_763del	ENSP00000495641.2:p.Asn254LysfsTer29
ENST00000233146.7:c.762_763del MANE Select	ENSP00000233146.2:p.Asn254LysfsTer29
ENST00000543555.6:c.564_565del	ENSP00000442697.1:p.Asn188LysfsTer29
ENST00000644092.1:c.762_763del	ENSP00000496351.1:p.Asn254LysfsTer29
ENST00000645339.1:c.762_763del	ENSP00000496441.1:p.Asn254LysfsTer29
ENST00000645506.1:c.762_763del	ENSP00000495455.1:p.Asn254LysfsTer29
ENST00000646415.1:c.762_763del	ENSP00000495543.1:p.Asn254LysfsTer29
ENST00000233146.6:c.762_763del	ENSP00000233146.2:p.Asn254LysfsTer29
ENST00000406134.5:c.762_763del	ENSP00000384199.1:p.Asn254LysfsTer29
ENST00000543555.5:c.564_565del	ENSP00000442697.1:p.Asn188LysfsTer29
ENST00000610696.4:c.762_763del	ENSP00000483159.1:p.Asn254LysfsTer29
ENST00000613514.4:c.762_763del	ENSP00000484137.1:p.Asn254LysfsTer29
ENST00000617333.3:c.762_763del	ENSP00000482468.1:p.Asn254LysfsTer29
ENST00000617938.4:c.762_763del	ENSP00000481158.1:p.Asn254LysfsTer29
ENST00000621359.2:c.762_763del	ENSP00000481416.1:p.Asn254LysfsTer29
NM_000251.2:c.762_763del , LRG_218t1:c.762_763del	NP_000242.1:p.Asn254LysfsTer29
NM_001258281.1:c.564_565del	NP_001245210.1:p.Asn188LysfsTer29
XM_005264332.2:c.762_763del	XP_005264389.2:p.Asn254LysfsTer29
XM_011532867.1:c.762_763del	XP_011531169.1:p.Asn254LysfsTer29
XR_939685.1:n.834_835del
XM_005264332.4:c.762_763del	XP_005264389.2:p.Asn254LysfsTer29
XM_011532867.2:c.762_763del	XP_011531169.1:p.Asn254LysfsTer29
XR_001738747.2:n.824_825del
XR_939685.2:n.824_825del
NM_000251.3:c.762_763del MANE Select	NP_000242.1:p.Asn254LysfsTer29