Canonical Allele Identifier: CA10062532

Gene: ITGB2

Linked Data

• ClinVar Variation Id: 733274
• ClinVar RCV Id: RCV000908534
• dbSNP Id: rs140767058
• ExAC: 21:46306709 C / T
• gnomAD v2: 21-46306709-C-T
• gnomAD v3: 21-44886794-C-T
• gnomAD v4: 21-44886794-C-T
• MyVariant Identifiers: chr21:g.46306709C>T (hg19) ; chr21:g.44886794C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44886794C>T , CM000683.2:g.44886794C>T	GRCh38
NC_000021.8:g.46306709C>T , CM000683.1:g.46306709C>T	GRCh37
NC_000021.7:g.45131137C>T	NCBI36
NG_007270.2:g.47045G>A , LRG_76:g.47045G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696946.1:n.1396G>A
ENST00000302347.10:c.2261G>A	ENSP00000303242.6:p.Ser754Asn
ENST00000652462.1:c.2189G>A MANE Select	ENSP00000498780.1:p.Ser730Asn
ENST00000302347.9:c.2189G>A	ENSP00000303242.5:p.Ser730Asn
ENST00000355153.8:c.2189G>A	ENSP00000347279.4:p.Ser730Asn
ENST00000397850.6:c.2189G>A	ENSP00000380948.2:p.Ser730Asn
ENST00000397852.5:c.2189G>A	ENSP00000380950.1:p.Ser730Asn
ENST00000397854.7:c.2018G>A	ENSP00000380952.3:p.Ser673Asn
ENST00000397857.5:c.2189G>A	ENSP00000380955.1:p.Ser730Asn
ENST00000475170.5:n.1589G>A
ENST00000479202.5:n.548G>A
ENST00000498666.5:n.4245G>A
ENST00000523323.5:c.*2016G>A	ENSP00000427732.1:n.*2016G>A
ENST00000610622.4:c.*880G>A	ENSP00000480700.1:n.*880G>A
NM_000211.4:c.2189G>A	NP_000202.3:p.Ser730Asn
NM_001127491.2:c.2189G>A	NP_001120963.2:p.Ser730Asn
NM_001303238.1:c.1982G>A	NP_001290167.1:p.Ser661Asn
XM_006724001.1:c.1982G>A	XP_006724064.1:p.Ser661Asn
XM_006724001.2:c.1982G>A	XP_006724064.1:p.Ser661Asn
NM_000211.5:c.2189G>A MANE Select	NP_000202.3:p.Ser730Asn
NM_001127491.3:c.2189G>A	NP_001120963.2:p.Ser730Asn
NM_001303238.2:c.1982G>A	NP_001290167.1:p.Ser661Asn