Canonical Allele Identifier: CA399793915

Gene: ITGA2B

Linked Data

• ClinVar Variation Id: 1210193
• ClinVar RCV Id: RCV001580239
• dbSNP Id: rs2143436505
• MyVariant Identifiers: chr17:g.42453086T>C (hg19) ; chr17:g.44375718T>C (hg38)
• ERepo: CA399793915/MONDO:0010119/011 ; CA399793915/MONDO:0100326/011

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44375718T>C , CM000679.2:g.44375718T>C	GRCh38
NC_000017.10:g.42453086T>C , CM000679.1:g.42453086T>C	GRCh37
NC_000017.9:g.39808612T>C	NCBI36
NG_008331.1:g.18788A>G , LRG_479:g.18788A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2602-2A>G MANE Select	ENSP00000262407.5:n.2602-2A>G
ENST00000648408.1:c.2033-2A>G
ENST00000262407.5:c.2602-2A>G	ENSP00000262407.5:n.2602-2A>G
ENST00000587295.5:c.253+115A>G
ENST00000592462.5:n.1397-2A>G
NM_000419.3:c.2602-2A>G , LRG_479t1:c.2602-2A>G	NP_000410.2:n.2602-2A>G
XM_011524749.1:c.2602-2A>G	XP_011523051.1:n.2602-2A>G
XM_011524750.1:c.2602-2A>G	XP_011523052.1:n.2602-2A>G
NM_000419.4:c.2602-2A>G	NP_000410.2:n.2602-2A>G
NM_000419.5:c.2602-2A>G MANE Select	NP_000410.2:n.2602-2A>G