Canonical Allele Identifier: CA626118833

Gene: ITGA2B

Linked Data

• dbSNP Id: rs77992265
• gnomAD v2: 17-42449582-G-A
• gnomAD v3: 17-44372214-G-A
• gnomAD v4: 17-44372214-G-A
• MyVariant Identifiers: chr17:g.42449582G>A (hg19) ; chr17:g.44372214G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44372214G>A , CM000679.2:g.44372214G>A	GRCh38
NC_000017.10:g.42449582G>A , CM000679.1:g.42449582G>A	GRCh37
NC_000017.9:g.39805108G>A	NCBI36
NG_008331.1:g.22292C>T , LRG_479:g.22292C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.*150C>T MANE Select	ENSP00000262407.5:n.*150C>T
ENST00000648408.1:c.2584C>T
ENST00000262407.5:c.*150C>T	ENSP00000262407.5:n.*150C>T
ENST00000587295.5:c.463C>T
ENST00000588098.1:c.247C>T
NM_000419.3:c.*150C>T , LRG_479t1:c.*150C>T	NP_000410.2:n.*150C>T
XM_011524749.1:c.*150C>T	XP_011523051.1:n.*150C>T
XM_011524750.1:c.*150C>T	XP_011523052.1:n.*150C>T
NM_000419.4:c.*150C>T	NP_000410.2:n.*150C>T
NM_000419.5:c.*150C>T MANE Select	NP_000410.2:n.*150C>T