Canonical Allele Identifier: CA10062940

Gene: ITGB2

Linked Data

• dbSNP Id: rs370940498
• ExAC: 21:46314835 G / A
• gnomAD v2: 21-46314835-G-A
• gnomAD v3: 21-44894920-G-A
• gnomAD v4: 21-44894920-G-A
• MyVariant Identifiers: chr21:g.46314835G>A (hg19) ; chr21:g.44894920G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44894920G>A , CM000683.2:g.44894920G>A	GRCh38
NC_000021.8:g.46314835G>A , CM000683.1:g.46314835G>A	GRCh37
NC_000021.7:g.45139263G>A	NCBI36
NG_007270.2:g.38919C>T , LRG_76:g.38919C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302347.10:c.1155+51C>T	ENSP00000303242.6:n.1155+51C>T
ENST00000652462.1:c.1083+51C>T MANE Select	ENSP00000498780.1:n.1083+51C>T
ENST00000302347.9:c.1083+51C>T	ENSP00000303242.5:n.1083+51C>T
ENST00000355153.8:c.1083+51C>T	ENSP00000347279.4:n.1083+51C>T
ENST00000397850.6:c.1083+51C>T	ENSP00000380948.2:n.1083+51C>T
ENST00000397852.5:c.1083+51C>T	ENSP00000380950.1:n.1083+51C>T
ENST00000397854.7:c.912+51C>T	ENSP00000380952.3:n.912+51C>T
ENST00000397857.5:c.1083+51C>T	ENSP00000380955.1:n.1083+51C>T
ENST00000498666.5:n.1277C>T
ENST00000523323.5:c.*910+51C>T	ENSP00000427732.1:n.*910+51C>T
ENST00000610622.4:c.912+51C>T	ENSP00000480700.1:n.912+51C>T
NM_000211.4:c.1083+51C>T	NP_000202.3:n.1083+51C>T
NM_001127491.2:c.1083+51C>T	NP_001120963.2:n.1083+51C>T
NM_001303238.1:c.876+51C>T	NP_001290167.1:n.876+51C>T
XM_006724001.1:c.876+51C>T	XP_006724064.1:n.876+51C>T
XM_006724001.2:c.876+51C>T	XP_006724064.1:n.876+51C>T
NM_000211.5:c.1083+51C>T MANE Select	NP_000202.3:n.1083+51C>T
NM_001127491.3:c.1083+51C>T	NP_001120963.2:n.1083+51C>T
NM_001303238.2:c.876+51C>T	NP_001290167.1:n.876+51C>T