Canonical Allele Identifier: CA10062535

Gene: ITGB2

Linked Data

• dbSNP Id: rs755792143
• ExAC: 21:46306729 C / G
• gnomAD v2: 21-46306729-C-G
• gnomAD v4: 21-44886814-C-G
• MyVariant Identifiers: chr21:g.46306729C>G (hg19) ; chr21:g.44886814C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44886814C>G , CM000683.2:g.44886814C>G	GRCh38
NC_000021.8:g.46306729C>G , CM000683.1:g.46306729C>G	GRCh37
NC_000021.7:g.45131157C>G	NCBI36
NG_007270.2:g.47025G>C , LRG_76:g.47025G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696946.1:n.1376G>C
ENST00000302347.10:c.2241G>C	ENSP00000303242.6:p.Trp747Cys
ENST00000652462.1:c.2169G>C MANE Select	ENSP00000498780.1:p.Trp723Cys
ENST00000302347.9:c.2169G>C	ENSP00000303242.5:p.Trp723Cys
ENST00000355153.8:c.2169G>C	ENSP00000347279.4:p.Trp723Cys
ENST00000397850.6:c.2169G>C	ENSP00000380948.2:p.Trp723Cys
ENST00000397852.5:c.2169G>C	ENSP00000380950.1:p.Trp723Cys
ENST00000397854.7:c.1998G>C	ENSP00000380952.3:p.Trp666Cys
ENST00000397857.5:c.2169G>C	ENSP00000380955.1:p.Trp723Cys
ENST00000475170.5:n.1569G>C
ENST00000479202.5:n.528G>C
ENST00000498666.5:n.4225G>C
ENST00000523323.5:c.*1996G>C	ENSP00000427732.1:n.*1996G>C
ENST00000610622.4:c.*860G>C	ENSP00000480700.1:n.*860G>C
NM_000211.4:c.2169G>C	NP_000202.3:p.Trp723Cys
NM_001127491.2:c.2169G>C	NP_001120963.2:p.Trp723Cys
NM_001303238.1:c.1962G>C	NP_001290167.1:p.Trp654Cys
XM_006724001.1:c.1962G>C	XP_006724064.1:p.Trp654Cys
XM_006724001.2:c.1962G>C	XP_006724064.1:p.Trp654Cys
NM_000211.5:c.2169G>C MANE Select	NP_000202.3:p.Trp723Cys
NM_001127491.3:c.2169G>C	NP_001120963.2:p.Trp723Cys
NM_001303238.2:c.1962G>C	NP_001290167.1:p.Trp654Cys