Canonical Allele Identifier: CA399805343

Gene: ITGA2B

Linked Data

• gnomAD v4: 17-44385029-G-C
• MyVariant Identifiers: chr17:g.42462397G>C (hg19) ; chr17:g.44385029G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44385029G>C , CM000679.2:g.44385029G>C	GRCh38
NC_000017.10:g.42462397G>C , CM000679.1:g.42462397G>C	GRCh37
NC_000017.9:g.39817923G>C	NCBI36
NG_008331.1:g.9477C>G , LRG_479:g.9477C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262407.6:c.718C>G MANE Select	ENSP00000262407.5:p.Pro240Ala
ENST00000648408.1:c.149C>G
ENST00000262407.5:c.718C>G	ENSP00000262407.5:p.Pro240Ala
ENST00000589645.5:n.169C>G
ENST00000591990.5:n.80C>G
ENST00000592075.5:n.87C>G
ENST00000592226.5:n.39+135C>G
ENST00000592253.5:n.226C>G
ENST00000592944.1:n.400C>G
NM_000419.3:c.718C>G , LRG_479t1:c.718C>G	NP_000410.2:p.Pro240Ala
XM_011524749.1:c.718C>G	XP_011523051.1:p.Pro240Ala
XM_011524750.1:c.718C>G	XP_011523052.1:p.Pro240Ala
NM_000419.4:c.718C>G	NP_000410.2:p.Pro240Ala
NM_000419.5:c.718C>G MANE Select	NP_000410.2:p.Pro240Ala