Canonical Allele Identifier: CA14864677

Gene: ITGB2 ITGB2-AS1

Linked Data

• dbSNP Id: rs2070946
• gnomAD v2: 21-46341197-T-C
• gnomAD v3: 21-44921282-T-C
• gnomAD v4: 21-44921282-T-C
• MyVariant Identifiers: chr21:g.46341197T>C (hg19) ; chr21:g.44921282T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44921282T>C , CM000683.2:g.44921282T>C	GRCh38
NC_000021.8:g.46341197T>C , CM000683.1:g.46341197T>C	GRCh37
NC_000021.7:g.45165625T>C	NCBI36
NG_007270.2:g.12557A>G , LRG_76:g.12557A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355153.8:c.-4+7372A>G (ITGB2)	ENSP00000347279.4:n.-4+7372A>G
ENST00000397850.6:c.-233-232A>G (ITGB2)	ENSP00000380948.2:n.-233-232A>G
ENST00000517563.5:c.-145-320A>G (ITGB2)	ENSP00000428413.1:n.-145-320A>G
ENST00000521995.1:c.-233-232A>G (ITGB2)	ENSP00000429683.1:n.-233-232A>G
NM_001127491.2:c.-4+7372A>G (ITGB2)	NP_001120963.2:n.-4+7372A>G
NR_038311.1:n.248T>C (ITGB2-AS1)
NR_038312.1:n.248T>C (ITGB2-AS1)
NR_038313.1:n.248T>C (ITGB2-AS1)
NR_038314.1:n.248T>C (ITGB2-AS1)
NR_038315.1:n.248T>C (ITGB2-AS1)
NR_038316.1:n.248T>C (ITGB2-AS1)
NM_001127491.3:c.-4+7372A>G (ITGB2)	NP_001120963.2:n.-4+7372A>G