Canonical Allele Identifier: CA915940799

Gene: ITGA2B

Linked Data

• ClinVar Variation Id: 627052
• ClinVar RCV Id: RCV000851764
• dbSNP Id: rs1598375779
• ERepo: CA915940799/MONDO:0100326/011

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374719del , CM000679.2:g.44374719del	GRCh38
NC_000017.10:g.42452087del , CM000679.1:g.42452087del	GRCh37
NC_000017.9:g.39807613del	NCBI36
NG_008331.1:g.19787del , LRG_479:g.19787del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2883del MANE Select	ENSP00000262407.5:p.Phe961LeufsTer?
ENST00000648408.1:c.2314del
ENST00000262407.5:c.2883del	ENSP00000262407.5:p.Phe961LeufsTer?
ENST00000587295.5:c.253+1114del
ENST00000592462.5:n.2394del
NM_000419.3:c.2883del , LRG_479t1:c.2883del	NP_000410.2:p.Phe961LeufsTer?
XM_011524749.1:c.2842-249del	XP_011523051.1:n.2842-249del
XM_011524750.1:c.2883del	XP_011523052.1:p.Phe961LeufsTer?
NM_000419.4:c.2883del	NP_000410.2:p.Phe961LeufsTer?
NM_000419.5:c.2883del MANE Select	NP_000410.2:p.Phe961LeufsTer?