Canonical Allele Identifier: CA399803822
Community Standard Title: NM_000419.5(ITGA2B):c.1211-1G>C
Gene: ITGA2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44381062C>G , CM000679.2:g.44381062C>G GRCh38
NC_000017.10:g.42458430C>G , CM000679.1:g.42458430C>G GRCh37
NC_000017.9:g.39813956C>G NCBI36
NG_008331.1:g.13444G>C , LRG_479:g.13444G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000419.5:c.1211-1G>C MANE Select NP_000410.2:n.1211-1G>C
ENST00000262407.6:c.1211-1G>C MANE Select ENSP00000262407.5:n.1211-1G>C
NM_000419.3:c.1211-1G>C , LRG_479t1:c.1211-1G>C NP_000410.2:n.1211-1G>C
NM_000419.4:c.1211-1G>C NP_000410.2:n.1211-1G>C
ENST00000262407.5:c.1211-1G>C ENSP00000262407.5:n.1211-1G>C
ENST00000592226.5:n.451-1G>C
ENST00000592462.5:n.6-1G>C
ENST00000648408.1:c.642-1G>C
XM_011524749.1:c.1211-1G>C XP_011523051.1:n.1211-1G>C
XM_011524750.1:c.1211-1G>C XP_011523052.1:n.1211-1G>C