Canonical Allele Identifier: CA626224506

Gene: ITGA2B

Linked Data

• dbSNP Id: rs1294982584
• gnomAD v2: 17-42452924-G-GGA
• gnomAD v4: 17-44375556-G-GGA
• MyVariant Identifiers: chr17:g.42452924_42452925insGA (hg19) ; chr17:g.44375556_44375557insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44375557_44375558insAG , CM000679.2:g.44375557_44375558insAG	GRCh38
NC_000017.10:g.42452925_42452926insAG , CM000679.1:g.42452925_42452926insAG	GRCh37
NC_000017.9:g.39808451_39808452insAG	NCBI36
NG_008331.1:g.18949_18950insTC , LRG_479:g.18949_18950insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2727+34_2727+35insTC MANE Select	ENSP00000262407.5:n.2727+34_2727+35insTC
ENST00000648408.1:c.2158+34_2158+35insTC
ENST00000262407.5:c.2727+34_2727+35insTC	ENSP00000262407.5:n.2727+34_2727+35insTC
ENST00000587295.5:c.253+276_253+277insTC
ENST00000592462.5:n.1556_1557insTC
NM_000419.3:c.2727+34_2727+35insTC , LRG_479t1:c.2727+34_2727+35insTC	NP_000410.2:n.2727+34_2727+35insTC
XM_011524749.1:c.2727+34_2727+35insTC	XP_011523051.1:n.2727+34_2727+35insTC
XM_011524750.1:c.2727+34_2727+35insTC	XP_011523052.1:n.2727+34_2727+35insTC
NM_000419.4:c.2727+34_2727+35insTC	NP_000410.2:n.2727+34_2727+35insTC
NM_000419.5:c.2727+34_2727+35insTC MANE Select	NP_000410.2:n.2727+34_2727+35insTC