Canonical Allele Identifier: CA10062543

Gene: ITGB2

Linked Data

• dbSNP Id: rs747142946
• ExAC: 21:46306762 G / C
• gnomAD v2: 21-46306762-G-C
• gnomAD v4: 21-44886847-G-C
• MyVariant Identifiers: chr21:g.46306762G>C (hg19) ; chr21:g.44886847G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44886847G>C , CM000683.2:g.44886847G>C	GRCh38
NC_000021.8:g.46306762G>C , CM000683.1:g.46306762G>C	GRCh37
NC_000021.7:g.45131190G>C	NCBI36
NG_007270.2:g.46992C>G , LRG_76:g.46992C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696946.1:n.1343C>G
ENST00000302347.10:c.2208C>G	ENSP00000303242.6:p.Ile736Met
ENST00000652462.1:c.2136C>G MANE Select	ENSP00000498780.1:p.Ile712Met
ENST00000302347.9:c.2136C>G	ENSP00000303242.5:p.Ile712Met
ENST00000355153.8:c.2136C>G	ENSP00000347279.4:p.Ile712Met
ENST00000397850.6:c.2136C>G	ENSP00000380948.2:p.Ile712Met
ENST00000397852.5:c.2136C>G	ENSP00000380950.1:p.Ile712Met
ENST00000397854.7:c.1965C>G	ENSP00000380952.3:p.Ile655Met
ENST00000397857.5:c.2136C>G	ENSP00000380955.1:p.Ile712Met
ENST00000475170.5:n.1536C>G
ENST00000479202.5:n.495C>G
ENST00000498666.5:n.4192C>G
ENST00000523323.5:c.*1963C>G	ENSP00000427732.1:n.*1963C>G
ENST00000610622.4:c.*827C>G	ENSP00000480700.1:n.*827C>G
NM_000211.4:c.2136C>G	NP_000202.3:p.Ile712Met
NM_001127491.2:c.2136C>G	NP_001120963.2:p.Ile712Met
NM_001303238.1:c.1929C>G	NP_001290167.1:p.Ile643Met
XM_006724001.1:c.1929C>G	XP_006724064.1:p.Ile643Met
XM_006724001.2:c.1929C>G	XP_006724064.1:p.Ile643Met
NM_000211.5:c.2136C>G MANE Select	NP_000202.3:p.Ile712Met
NM_001127491.3:c.2136C>G	NP_001120963.2:p.Ile712Met
NM_001303238.2:c.1929C>G	NP_001290167.1:p.Ile643Met