Canonical Allele Identifier: CA10062525

Gene: ITGB2

Linked Data

• ClinVar Variation Id: 1353686
• ClinVar RCV Id: RCV001873925
• dbSNP Id: rs773262146
• ExAC: 21:46306651 A / G
• gnomAD v2: 21-46306651-A-G
• gnomAD v4: 21-44886736-A-G
• MyVariant Identifiers: chr21:g.46306651A>G (hg19) ; chr21:g.44886736A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44886736A>G , CM000683.2:g.44886736A>G	GRCh38
NC_000021.8:g.46306651A>G , CM000683.1:g.46306651A>G	GRCh37
NC_000021.7:g.45131079A>G	NCBI36
NG_007270.2:g.47103T>C , LRG_76:g.47103T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696946.1:n.1454T>C
ENST00000302347.10:c.2319T>C	ENSP00000303242.6:p.Asn773=
ENST00000652462.1:c.2247T>C MANE Select	ENSP00000498780.1:p.Asn749=
ENST00000302347.9:c.2247T>C	ENSP00000303242.5:p.Asn749=
ENST00000355153.8:c.2247T>C	ENSP00000347279.4:p.Asn749=
ENST00000397850.6:c.2247T>C	ENSP00000380948.2:p.Asn749=
ENST00000397852.5:c.2247T>C	ENSP00000380950.1:p.Asn749=
ENST00000397854.7:c.2076T>C	ENSP00000380952.3:p.Asn692=
ENST00000397857.5:c.2247T>C	ENSP00000380955.1:p.Asn749=
ENST00000475170.5:n.1647T>C
ENST00000479202.5:n.606T>C
ENST00000498666.5:n.4303T>C
ENST00000523323.5:c.*2074T>C	ENSP00000427732.1:n.*2074T>C
ENST00000610622.4:c.*938T>C	ENSP00000480700.1:n.*938T>C
NM_000211.4:c.2247T>C	NP_000202.3:p.Asn749=
NM_001127491.2:c.2247T>C	NP_001120963.2:p.Asn749=
NM_001303238.1:c.2040T>C	NP_001290167.1:p.Asn680=
XM_006724001.1:c.2040T>C	XP_006724064.1:p.Asn680=
XM_006724001.2:c.2040T>C	XP_006724064.1:p.Asn680=
NM_000211.5:c.2247T>C MANE Select	NP_000202.3:p.Asn749=
NM_001127491.3:c.2247T>C	NP_001120963.2:p.Asn749=
NM_001303238.2:c.2040T>C	NP_001290167.1:p.Asn680=