Canonical Allele Identifier: CA399793915
Gene: ITGA2B HGNC NCBI

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
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'