Canonical Allele Identifier: CA410482473

Gene: ITGB2

Linked Data

• dbSNP Id: rs1455363778
• gnomAD v4: 21-44886798-G-T
• MyVariant Identifiers: chr21:g.46306713G>T (hg19) ; chr21:g.44886798G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44886798G>T , CM000683.2:g.44886798G>T	GRCh38
NC_000021.8:g.46306713G>T , CM000683.1:g.46306713G>T	GRCh37
NC_000021.7:g.45131141G>T	NCBI36
NG_007270.2:g.47041C>A , LRG_76:g.47041C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696946.1:n.1392C>A
ENST00000302347.10:c.2257C>A	ENSP00000303242.6:p.Leu753Met
ENST00000652462.1:c.2185C>A MANE Select	ENSP00000498780.1:p.Leu729Met
ENST00000302347.9:c.2185C>A	ENSP00000303242.5:p.Leu729Met
ENST00000355153.8:c.2185C>A	ENSP00000347279.4:p.Leu729Met
ENST00000397850.6:c.2185C>A	ENSP00000380948.2:p.Leu729Met
ENST00000397852.5:c.2185C>A	ENSP00000380950.1:p.Leu729Met
ENST00000397854.7:c.2014C>A	ENSP00000380952.3:p.Leu672Met
ENST00000397857.5:c.2185C>A	ENSP00000380955.1:p.Leu729Met
ENST00000475170.5:n.1585C>A
ENST00000479202.5:n.544C>A
ENST00000498666.5:n.4241C>A
ENST00000523323.5:c.*2012C>A	ENSP00000427732.1:n.*2012C>A
ENST00000610622.4:c.*876C>A	ENSP00000480700.1:n.*876C>A
NM_000211.4:c.2185C>A	NP_000202.3:p.Leu729Met
NM_001127491.2:c.2185C>A	NP_001120963.2:p.Leu729Met
NM_001303238.1:c.1978C>A	NP_001290167.1:p.Leu660Met
XM_006724001.1:c.1978C>A	XP_006724064.1:p.Leu660Met
XM_006724001.2:c.1978C>A	XP_006724064.1:p.Leu660Met
NM_000211.5:c.2185C>A MANE Select	NP_000202.3:p.Leu729Met
NM_001127491.3:c.2185C>A	NP_001120963.2:p.Leu729Met
NM_001303238.2:c.1978C>A	NP_001290167.1:p.Leu660Met