Canonical Allele Identifier: CA10063385

Gene: ITGB2

Linked Data

• ClinVar Variation Id: 461470
• ClinVar RCV Id: RCV000542320 ; RCV001280988
• dbSNP Id: rs199948899
• ExAC: 21:46330190 G / A
• gnomAD v2: 21-46330190-G-A
• gnomAD v3: 21-44910275-G-A
• gnomAD v4: 21-44910275-G-A
• MyVariant Identifiers: chr21:g.46330190G>A (hg19) ; chr21:g.44910275G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44910275G>A , CM000683.2:g.44910275G>A	GRCh38
NC_000021.8:g.46330190G>A , CM000683.1:g.46330190G>A	GRCh37
NC_000021.7:g.45154618G>A	NCBI36
NG_007270.2:g.23564C>T , LRG_76:g.23564C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302347.10:c.147+9C>T	ENSP00000303242.6:n.147+9C>T
ENST00000652462.1:c.147+9C>T MANE Select	ENSP00000498780.1:n.147+9C>T
ENST00000302347.9:c.147+9C>T	ENSP00000303242.5:n.147+9C>T
ENST00000320216.10:c.120+9C>T	ENSP00000317697.6:n.120+9C>T
ENST00000355153.8:c.147+9C>T	ENSP00000347279.4:n.147+9C>T
ENST00000397846.7:c.147+9C>T	ENSP00000380944.3:n.147+9C>T
ENST00000397850.6:c.147+9C>T	ENSP00000380948.2:n.147+9C>T
ENST00000397852.5:c.147+9C>T	ENSP00000380950.1:n.147+9C>T
ENST00000397854.7:c.147+9C>T	ENSP00000380952.3:n.147+9C>T
ENST00000397857.5:c.147+9C>T	ENSP00000380955.1:n.147+9C>T
ENST00000479849.1:n.231+9C>T
ENST00000498666.5:n.290+9C>T
ENST00000517563.5:c.147+9C>T	ENSP00000428413.1:n.147+9C>T
ENST00000517819.5:c.147+9C>T	ENSP00000428870.1:n.147+9C>T
ENST00000520389.5:c.147+9C>T	ENSP00000428434.1:n.147+9C>T
ENST00000521987.1:n.113-6740C>T
ENST00000522688.5:c.-61+9C>T	ENSP00000428125.1:n.-61+9C>T
ENST00000522931.5:c.147+9C>T	ENSP00000428979.1:n.147+9C>T
ENST00000523126.1:n.405+9C>T
ENST00000523323.5:c.190+9C>T	ENSP00000427732.1:n.190+9C>T
ENST00000523663.5:c.147+9C>T	ENSP00000428503.1:n.147+9C>T
ENST00000524251.1:c.-61+9C>T	ENSP00000430901.1:n.-61+9C>T
ENST00000610622.4:c.147+9C>T	ENSP00000480700.1:n.147+9C>T
NM_000211.4:c.147+9C>T	NP_000202.3:n.147+9C>T
NM_001127491.2:c.147+9C>T	NP_001120963.2:n.147+9C>T
NM_001303238.1:c.-61+9C>T	NP_001290167.1:n.-61+9C>T
XM_006724001.1:c.-61+9C>T	XP_006724064.1:n.-61+9C>T
XM_006724001.2:c.-61+9C>T	XP_006724064.1:n.-61+9C>T
XR_001755083.1:n.2C>T
NM_000211.5:c.147+9C>T MANE Select	NP_000202.3:n.147+9C>T
NM_001127491.3:c.147+9C>T	NP_001120963.2:n.147+9C>T
NM_001303238.2:c.-61+9C>T	NP_001290167.1:n.-61+9C>T