Canonical Allele Identifier: CA1130715
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1632023
ClinVar RCV Id: RCV002115015
dbSNP Id: rs747237652
ExAC: 1:154543648 T / C
gnomAD v2: 1-154543648-T-C
gnomAD v3: 1-154571172-T-C
gnomAD v4: 1-154571172-T-C
MyVariant Identifiers: chr1:g.154543648T>C (hg19) chr1:g.154571172T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571172T>C , CM000663.2:g.154571172T>C GRCh38
NC_000001.10:g.154543648T>C , CM000663.1:g.154543648T>C GRCh37
NC_000001.9:g.152810272T>C NCBI36
NG_008027.1:g.8392T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.366-17T>C MANE Select ENSP00000357461.3:n.366-17T>C
ENST00000636034.1:c.366-17T>C ENSP00000489703.1:n.366-17T>C
ENST00000637900.1:c.372-17T>C ENSP00000490474.1:n.372-17T>C
ENST00000368476.3:c.366-17T>C ENSP00000357461.3:n.366-17T>C
NM_000748.2:c.366-17T>C NP_000739.1:n.366-17T>C
XM_017000180.2:c.-9-153T>C XP_016855669.1:n.-9-153T>C
XR_001736952.2:n.618-17T>C
NM_000748.3:c.366-17T>C MANE Select NP_000739.1:n.366-17T>C
Search 100 bp 5'
Search 100 bp 3'