Canonical Allele Identifier: CA399788190

Gene: ITGA2B

Linked Data

• dbSNP Id: rs2048520292
• MyVariant Identifiers: chr17:g.42451729A>G (hg19) ; chr17:g.44374361A>G (hg38)
• PubMed: PMID:25363768

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374361A>G , CM000679.2:g.44374361A>G	GRCh38
NC_000017.10:g.42451729A>G , CM000679.1:g.42451729A>G	GRCh37
NC_000017.9:g.39807255A>G	NCBI36
NG_008331.1:g.20145T>C , LRG_479:g.20145T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262407.6:c.3053T>C MANE Select	ENSP00000262407.5:p.Met1018Thr
ENST00000648408.1:c.2374+298T>C
ENST00000262407.5:c.3053T>C	ENSP00000262407.5:p.Met1018Thr
ENST00000587295.5:c.253+1472T>C
ENST00000588098.1:c.37+298T>C
ENST00000592462.5:n.2752T>C
NM_000419.3:c.3053T>C , LRG_479t1:c.3053T>C	NP_000410.2:p.Met1018Thr
XM_011524749.1:c.2951T>C	XP_011523051.1:p.Met984Thr
XM_011524750.1:c.2943+298T>C	XP_011523052.1:n.2943+298T>C
NM_000419.4:c.3053T>C	NP_000410.2:p.Met1018Thr
NM_000419.5:c.3053T>C MANE Select	NP_000410.2:p.Met1018Thr