Canonical Allele Identifier: CA983994912

Gene: ITGA2B

Linked Data

• dbSNP Id: rs2048519530
• gnomAD v3: 17-44374274-A-G
• gnomAD v4: 17-44374274-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374274A>G , CM000679.2:g.44374274A>G	GRCh38
NC_000017.10:g.42451642A>G , CM000679.1:g.42451642A>G	GRCh37
NC_000017.9:g.39807168A>G	NCBI36
NG_008331.1:g.20232T>C , LRG_479:g.20232T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262407.6:c.3060+80T>C MANE Select	ENSP00000262407.5:n.3060+80T>C
ENST00000648408.1:c.2374+385T>C
ENST00000262407.5:c.3060+80T>C	ENSP00000262407.5:n.3060+80T>C
ENST00000587295.5:c.253+1559T>C
ENST00000588098.1:c.37+385T>C
ENST00000592462.5:n.2839T>C
NM_000419.3:c.3060+80T>C , LRG_479t1:c.3060+80T>C	NP_000410.2:n.3060+80T>C
XM_011524749.1:c.2958+80T>C	XP_011523051.1:n.2958+80T>C
XM_011524750.1:c.2943+385T>C	XP_011523052.1:n.2943+385T>C
NM_000419.4:c.3060+80T>C	NP_000410.2:n.3060+80T>C
NM_000419.5:c.3060+80T>C MANE Select	NP_000410.2:n.3060+80T>C