Canonical Allele Identifier: CA8602449

Gene: ITGA2B

Linked Data

• dbSNP Id: rs374096642
• ExAC: 17:42449714 A / G
• gnomAD v2: 17-42449714-A-G
• gnomAD v4: 17-44372346-A-G
• MyVariant Identifiers: chr17:g.42449714A>G (hg19) ; chr17:g.44372346A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44372346A>G , CM000679.2:g.44372346A>G	GRCh38
NC_000017.10:g.42449714A>G , CM000679.1:g.42449714A>G	GRCh37
NC_000017.9:g.39805240A>G	NCBI36
NG_008331.1:g.22160T>C , LRG_479:g.22160T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.*18T>C MANE Select	ENSP00000262407.5:n.*18T>C
ENST00000648408.1:c.2452T>C
ENST00000262407.5:c.*18T>C	ENSP00000262407.5:n.*18T>C
ENST00000587295.5:c.331T>C
ENST00000588098.1:c.115T>C
NM_000419.3:c.*18T>C , LRG_479t1:c.*18T>C	NP_000410.2:n.*18T>C
XM_011524749.1:c.*18T>C	XP_011523051.1:n.*18T>C
XM_011524750.1:c.*18T>C	XP_011523052.1:n.*18T>C
NM_000419.4:c.*18T>C	NP_000410.2:n.*18T>C
NM_000419.5:c.*18T>C MANE Select	NP_000410.2:n.*18T>C