Canonical Allele Identifier: CA8603182

Gene: ITGA2B

Linked Data

• ClinVar Variation Id: 381748
• ClinVar RCV Id: RCV000425256 ; RCV001225257 ; RCV004551447 ; RCV002244886
• dbSNP Id: rs780786843
• ExAC: 17:42458406 C / T
• gnomAD v2: 17-42458406-C-T
• gnomAD v3: 17-44381038-C-T
• gnomAD v4: 17-44381038-C-T
• MyVariant Identifiers: chr17:g.42458406C>T (hg19) ; chr17:g.44381038C>T (hg38)
• ERepo: CA8603182/MONDO:0010119/011 ; CA8603182/MONDO:0100326/011

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44381038C>T , CM000679.2:g.44381038C>T	GRCh38
NC_000017.10:g.42458406C>T , CM000679.1:g.42458406C>T	GRCh37
NC_000017.9:g.39813932C>T	NCBI36
NG_008331.1:g.13468G>A , LRG_479:g.13468G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.1234G>A MANE Select	ENSP00000262407.5:p.Gly412Arg
ENST00000648408.1:c.665G>A
ENST00000262407.5:c.1234G>A	ENSP00000262407.5:p.Gly412Arg
ENST00000592226.5:n.474G>A
ENST00000592462.5:n.29G>A
NM_000419.3:c.1234G>A , LRG_479t1:c.1234G>A	NP_000410.2:p.Gly412Arg
XM_011524749.1:c.1234G>A	XP_011523051.1:p.Gly412Arg
XM_011524750.1:c.1234G>A	XP_011523052.1:p.Gly412Arg
NM_000419.4:c.1234G>A	NP_000410.2:p.Gly412Arg
NM_000419.5:c.1234G>A MANE Select	NP_000410.2:p.Gly412Arg