Canonical Allele Identifier: CA500274197

Gene: ITGA2B

Linked Data

• dbSNP Id: rs1235828631
• gnomAD v3: 17-44381009-C-A
• gnomAD v4: 17-44381009-C-A
• MyVariant Identifiers: chr17:g.42458377C>A (hg19) ; chr17:g.44381009C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44381009C>A , CM000679.2:g.44381009C>A	GRCh38
NC_000017.10:g.42458377C>A , CM000679.1:g.42458377C>A	GRCh37
NC_000017.9:g.39813903C>A	NCBI36
NG_008331.1:g.13497G>T , LRG_479:g.13497G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.1263G>T MANE Select	ENSP00000262407.5:p.Leu421=
ENST00000648408.1:c.694G>T
ENST00000262407.5:c.1263G>T	ENSP00000262407.5:p.Leu421=
ENST00000592226.5:n.503G>T
ENST00000592462.5:n.58G>T
NM_000419.3:c.1263G>T , LRG_479t1:c.1263G>T	NP_000410.2:p.Leu421=
XM_011524749.1:c.1263G>T	XP_011523051.1:p.Leu421=
XM_011524750.1:c.1263G>T	XP_011523052.1:p.Leu421=
NM_000419.4:c.1263G>T	NP_000410.2:p.Leu421=
NM_000419.5:c.1263G>T MANE Select	NP_000410.2:p.Leu421=