Canonical Allele Identifier: CA115848

Gene: ITGA2B

Linked Data

• ClinVar Variation Id: 2901
• ClinVar RCV Id: RCV000003035 ; RCV001580159
• dbSNP Id: rs137852911
• gnomAD v3: 17-44385193-A-G
• gnomAD v4: 17-44385193-A-G
• MyVariant Identifiers: chr17:g.42462561A>G (hg19) ; chr17:g.44385193A>G (hg38)
• ERepo: CA115848/MONDO:0010119/011
• PubMed: PMID:9473221

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44385193A>G , CM000679.2:g.44385193A>G	GRCh38
NC_000017.10:g.42462561A>G , CM000679.1:g.42462561A>G	GRCh37
NC_000017.9:g.39818087A>G	NCBI36
NG_008331.1:g.9313T>C , LRG_479:g.9313T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.641T>C MANE Select	ENSP00000262407.5:p.Leu214Pro
ENST00000648408.1:c.72T>C
ENST00000262407.5:c.641T>C	ENSP00000262407.5:p.Leu214Pro
ENST00000589645.5:n.92T>C
ENST00000591990.5:n.3T>C
ENST00000592075.5:n.10T>C
ENST00000592226.5:n.10T>C
ENST00000592253.5:n.149T>C
ENST00000592944.1:n.323T>C
NM_000419.3:c.641T>C , LRG_479t1:c.641T>C	NP_000410.2:p.Leu214Pro
XM_011524749.1:c.641T>C	XP_011523051.1:p.Leu214Pro
XM_011524750.1:c.641T>C	XP_011523052.1:p.Leu214Pro
NM_000419.4:c.641T>C	NP_000410.2:p.Leu214Pro
NM_000419.5:c.641T>C MANE Select	NP_000410.2:p.Leu214Pro