Canonical Allele Identifier: CA10062537

Gene: ITGB2

Linked Data

• ClinVar Variation Id: 955031
• ClinVar RCV Id: RCV001227594
• dbSNP Id: rs753452987
• ExAC: 21:46306749 T / C
• gnomAD v2: 21-46306749-T-C
• gnomAD v3: 21-44886834-T-C
• gnomAD v4: 21-44886834-T-C
• MyVariant Identifiers: chr21:g.46306749T>C (hg19) ; chr21:g.44886834T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44886834T>C , CM000683.2:g.44886834T>C	GRCh38
NC_000021.8:g.46306749T>C , CM000683.1:g.46306749T>C	GRCh37
NC_000021.7:g.45131177T>C	NCBI36
NG_007270.2:g.47005A>G , LRG_76:g.47005A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696946.1:n.1356A>G
ENST00000302347.10:c.2221A>G	ENSP00000303242.6:p.Ile741Val
ENST00000652462.1:c.2149A>G MANE Select	ENSP00000498780.1:p.Ile717Val
ENST00000302347.9:c.2149A>G	ENSP00000303242.5:p.Ile717Val
ENST00000355153.8:c.2149A>G	ENSP00000347279.4:p.Ile717Val
ENST00000397850.6:c.2149A>G	ENSP00000380948.2:p.Ile717Val
ENST00000397852.5:c.2149A>G	ENSP00000380950.1:p.Ile717Val
ENST00000397854.7:c.1978A>G	ENSP00000380952.3:p.Ile660Val
ENST00000397857.5:c.2149A>G	ENSP00000380955.1:p.Ile717Val
ENST00000475170.5:n.1549A>G
ENST00000479202.5:n.508A>G
ENST00000498666.5:n.4205A>G
ENST00000523323.5:c.*1976A>G	ENSP00000427732.1:n.*1976A>G
ENST00000610622.4:c.*840A>G	ENSP00000480700.1:n.*840A>G
NM_000211.4:c.2149A>G	NP_000202.3:p.Ile717Val
NM_001127491.2:c.2149A>G	NP_001120963.2:p.Ile717Val
NM_001303238.1:c.1942A>G	NP_001290167.1:p.Ile648Val
XM_006724001.1:c.1942A>G	XP_006724064.1:p.Ile648Val
XM_006724001.2:c.1942A>G	XP_006724064.1:p.Ile648Val
NM_000211.5:c.2149A>G MANE Select	NP_000202.3:p.Ile717Val
NM_001127491.3:c.2149A>G	NP_001120963.2:p.Ile717Val
NM_001303238.2:c.1942A>G	NP_001290167.1:p.Ile648Val