Canonical Allele Identifier: CA915940726

Gene: ITGA2B

Linked Data

• ClinVar Variation Id: 1330312
• ClinVar RCV Id: RCV001803405
• dbSNP Id: rs2143428858
• ERepo: CA915940726/MONDO:0100326/011

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374672_44374673del , CM000679.2:g.44374672_44374673del	GRCh38
NC_000017.10:g.42452040_42452041del , CM000679.1:g.42452040_42452041del	GRCh37
NC_000017.9:g.39807566_39807567del	NCBI36
NG_008331.1:g.19833_19834del , LRG_479:g.19833_19834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2929_2930del MANE Select	ENSP00000262407.5:p.Glu979SerfsTer?
ENST00000648408.1:c.2360_2361del
ENST00000262407.5:c.2929_2930del	ENSP00000262407.5:p.Glu979SerfsTer?
ENST00000587295.5:c.253+1160_253+1161del
ENST00000588098.1:c.23_24del
ENST00000592462.5:n.2440_2441del
NM_000419.3:c.2929_2930del , LRG_479t1:c.2929_2930del	NP_000410.2:p.Glu979SerfsTer?
XM_011524749.1:c.2842-203_2842-202del	XP_011523051.1:n.2842-203_2842-202del
XM_011524750.1:c.2929_2930del	XP_011523052.1:p.Glu979SerfsTer17
NM_000419.4:c.2929_2930del	NP_000410.2:p.Glu979SerfsTer?
NM_000419.5:c.2929_2930del MANE Select	NP_000410.2:p.Glu979SerfsTer?