Canonical Allele Identifier: CA219182

Gene: ITGB2

Linked Data

• ClinVar Variation Id: 68214
• ClinVar RCV Id: RCV000059048
• dbSNP Id: rs179363872
• MyVariant Identifiers: chr21:g.46306751C>G (hg19) ; chr21:g.44886836C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44886836C>G , CM000683.2:g.44886836C>G	GRCh38
NC_000021.8:g.46306751C>G , CM000683.1:g.46306751C>G	GRCh37
NC_000021.7:g.45131179C>G	NCBI36
NG_007270.2:g.47003G>C , LRG_76:g.47003G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696946.1:n.1354G>C
ENST00000302347.10:c.2219G>C	ENSP00000303242.6:p.Gly740Ala
ENST00000652462.1:c.2147G>C MANE Select	ENSP00000498780.1:p.Gly716Ala
ENST00000302347.9:c.2147G>C	ENSP00000303242.5:p.Gly716Ala
ENST00000355153.8:c.2147G>C	ENSP00000347279.4:p.Gly716Ala
ENST00000397850.6:c.2147G>C	ENSP00000380948.2:p.Gly716Ala
ENST00000397852.5:c.2147G>C	ENSP00000380950.1:p.Gly716Ala
ENST00000397854.7:c.1976G>C	ENSP00000380952.3:p.Gly659Ala
ENST00000397857.5:c.2147G>C	ENSP00000380955.1:p.Gly716Ala
ENST00000475170.5:n.1547G>C
ENST00000479202.5:n.506G>C
ENST00000498666.5:n.4203G>C
ENST00000523323.5:c.*1974G>C	ENSP00000427732.1:n.*1974G>C
ENST00000610622.4:c.*838G>C	ENSP00000480700.1:n.*838G>C
NM_000211.4:c.2147G>C	NP_000202.3:p.Gly716Ala
NM_001127491.2:c.2147G>C	NP_001120963.2:p.Gly716Ala
NM_001303238.1:c.1940G>C	NP_001290167.1:p.Gly647Ala
XM_006724001.1:c.1940G>C	XP_006724064.1:p.Gly647Ala
XM_006724001.2:c.1940G>C	XP_006724064.1:p.Gly647Ala
NM_000211.5:c.2147G>C MANE Select	NP_000202.3:p.Gly716Ala
NM_001127491.3:c.2147G>C	NP_001120963.2:p.Gly716Ala
NM_001303238.2:c.1940G>C	NP_001290167.1:p.Gly647Ala