Canonical Allele Identifier: CA3498330

Gene: ADRB2

Linked Data

• ClinVar Variation Id: 1262380
• ClinVar RCV Id: RCV001667499 ; RCV002221462
• dbSNP Id: rs1042711
• ExAC: 5:148206348 C / T
• gnomAD v2: 5-148206348-C-T
• gnomAD v3: 5-148826785-C-T
• gnomAD v4: 5-148826785-C-T
• MyVariant Identifiers: chr5:g.148206348C>T (hg19) ; chr5:g.148826785C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148826785C>T , CM000667.2:g.148826785C>T	GRCh38
NC_000005.9:g.148206348C>T , CM000667.1:g.148206348C>T	GRCh37
NC_000005.8:g.148186541C>T	NCBI36
NG_016421.1:g.5193C>T
NG_016421.2:g.5193C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000305988.6:c.-47C>T MANE Select	ENSP00000305372.4:n.-47C>T
ENST00000305988.5:c.-47C>T	ENSP00000305372.4:n.-47C>T
NM_000024.5:c.-47C>T	NP_000015.1:n.-47C>T
NM_000024.6:c.-47C>T MANE Select	NP_000015.2:n.-47C>T