Canonical Allele Identifier: CA8602590

Gene: ITGA2B

Linked Data

• dbSNP Id: rs759546742
• ExAC: 17:42452828 T / TTGAAGTG
• gnomAD v2: 17-42452828-T-TTGAAGTG
• gnomAD v4: 17-44375460-T-TTGAAGTG
• MyVariant Identifiers: chr17:g.42452828_42452829insTGAAGTG (hg19) ; chr17:g.44375460_44375461insTGAAGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44375461_44375467dup , CM000679.2:g.44375461_44375467dup	GRCh38
NC_000017.10:g.42452829_42452835dup , CM000679.1:g.42452829_42452835dup	GRCh37
NC_000017.9:g.39808355_39808361dup	NCBI36
NG_008331.1:g.19039_19045dup , LRG_479:g.19039_19045dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2727+124_2727+130dup MANE Select	ENSP00000262407.5:n.2727+124_2727+130dup
ENST00000648408.1:c.2158+124_2158+130dup
ENST00000262407.5:c.2727+124_2727+130dup	ENSP00000262407.5:n.2727+124_2727+130dup
ENST00000587295.5:c.253+366_253+372dup
ENST00000592462.5:n.1646_1652dup
NM_000419.3:c.2727+124_2727+130dup , LRG_479t1:c.2727+124_2727+130dup	NP_000410.2:n.2727+124_2727+130dup
XM_011524749.1:c.2727+124_2727+130dup	XP_011523051.1:n.2727+124_2727+130dup
XM_011524750.1:c.2727+124_2727+130dup	XP_011523052.1:n.2727+124_2727+130dup
NM_000419.4:c.2727+124_2727+130dup	NP_000410.2:n.2727+124_2727+130dup
NM_000419.5:c.2727+124_2727+130dup MANE Select	NP_000410.2:n.2727+124_2727+130dup