Canonical Allele Identifier: CA290949546
Gene: ITGA2B HGNC NCBI

Linked Data

dbSNP Id: rs767190646
MyVariant Identifiers: chr17:g.44379684C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44379684C>G , CM000679.2:g.44379684C>G GRCh38
NC_000017.10:g.42457052C>G , CM000679.1:g.42457052C>G GRCh37
NC_000017.9:g.39812578C>G NCBI36
NG_008331.1:g.14822G>C , LRG_479:g.14822G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262407.6:c.1878+5G>C MANE Select ENSP00000262407.5:n.1878+5G>C
ENST00000648408.1:c.1309+5G>C
ENST00000262407.5:c.1878+5G>C ENSP00000262407.5:n.1878+5G>C
ENST00000592462.5:n.673+5G>C
NM_000419.3:c.1878+5G>C , LRG_479t1:c.1878+5G>C NP_000410.2:n.1878+5G>C
XM_011524749.1:c.1878+5G>C XP_011523051.1:n.1878+5G>C
XM_011524750.1:c.1878+5G>C XP_011523052.1:n.1878+5G>C
NM_000419.4:c.1878+5G>C NP_000410.2:n.1878+5G>C
NM_000419.5:c.1878+5G>C MANE Select NP_000410.2:n.1878+5G>C