Canonical Allele Identifier: CA399792831

Gene: ITGA2B

Linked Data

• dbSNP Id: rs1383435868
• gnomAD v2: 17-42452975-T-C
• gnomAD v4: 17-44375607-T-C
• MyVariant Identifiers: chr17:g.42452975T>C (hg19) ; chr17:g.44375607T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44375607T>C , CM000679.2:g.44375607T>C	GRCh38
NC_000017.10:g.42452975T>C , CM000679.1:g.42452975T>C	GRCh37
NC_000017.9:g.39808501T>C	NCBI36
NG_008331.1:g.18899A>G , LRG_479:g.18899A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262407.6:c.2711A>G MANE Select	ENSP00000262407.5:p.Gln904Arg
ENST00000648408.1:c.2142A>G
ENST00000262407.5:c.2711A>G	ENSP00000262407.5:p.Gln904Arg
ENST00000587295.5:c.253+226A>G
ENST00000592462.5:n.1506A>G
NM_000419.3:c.2711A>G , LRG_479t1:c.2711A>G	NP_000410.2:p.Gln904Arg
XM_011524749.1:c.2711A>G	XP_011523051.1:p.Gln904Arg
XM_011524750.1:c.2711A>G	XP_011523052.1:p.Gln904Arg
NM_000419.4:c.2711A>G	NP_000410.2:p.Gln904Arg
NM_000419.5:c.2711A>G MANE Select	NP_000410.2:p.Gln904Arg