Canonical Allele Identifier: CA10650608

Gene: ITGB2

Linked Data

• ClinVar Variation Id: 340189
• ClinVar RCV Id: RCV000285974
• dbSNP Id: rs2070947
• gnomAD v2: 21-46340843-A-G
• gnomAD v3: 21-44920928-A-G
• gnomAD v4: 21-44920928-A-G
• MyVariant Identifiers: chr21:g.46340843A>G (hg19) ; chr21:g.44920928A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44920928A>G , CM000683.2:g.44920928A>G	GRCh38
NC_000021.8:g.46340843A>G , CM000683.1:g.46340843A>G	GRCh37
NC_000021.7:g.45165271A>G	NCBI36
NG_007270.2:g.12911T>C , LRG_76:g.12911T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000302347.9:c.-111T>C	ENSP00000303242.5:n.-111T>C
ENST00000355153.8:c.-4+7726T>C	ENSP00000347279.4:n.-4+7726T>C
ENST00000397850.6:c.-111T>C	ENSP00000380948.2:n.-111T>C
ENST00000498666.5:n.33T>C
ENST00000517563.5:c.-111T>C	ENSP00000428413.1:n.-111T>C
ENST00000517819.5:c.-111T>C	ENSP00000428870.1:n.-111T>C
ENST00000521987.1:n.5T>C
ENST00000521995.1:c.-111T>C	ENSP00000429683.1:n.-111T>C
ENST00000522688.5:c.-443T>C	ENSP00000428125.1:n.-443T>C
NM_000211.4:c.-111T>C	NP_000202.3:n.-111T>C
NM_001127491.2:c.-4+7726T>C	NP_001120963.2:n.-4+7726T>C
NM_001303238.1:c.-361T>C	NP_001290167.1:n.-361T>C
XM_006724001.1:c.-443T>C	XP_006724064.1:n.-443T>C
XM_006724001.2:c.-443T>C	XP_006724064.1:n.-443T>C
NM_001127491.3:c.-4+7726T>C	NP_001120963.2:n.-4+7726T>C