Canonical Allele Identifier: CA313663
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 205073
ClinVar RCV Id: RCV000186993 RCV001852445
dbSNP Id: rs780962241
ExAC: 1:154544209 A / G
gnomAD v2: 1-154544209-A-G
gnomAD v3: 1-154571733-A-G
gnomAD v4: 1-154571733-A-G
MyVariant Identifiers: chr1:g.154544209A>G (hg19) chr1:g.154571733A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571733A>G , CM000663.2:g.154571733A>G GRCh38
NC_000001.10:g.154544209A>G , CM000663.1:g.154544209A>G GRCh37
NC_000001.9:g.152810833A>G NCBI36
NG_008027.1:g.8953A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.910A>G MANE Select ENSP00000357461.3:p.Thr304Ala
ENST00000636034.1:c.910A>G ENSP00000489703.1:p.Thr304Ala
ENST00000637900.1:c.916A>G ENSP00000490474.1:p.Thr306Ala
ENST00000368476.3:c.910A>G ENSP00000357461.3:p.Thr304Ala
NM_000748.2:c.910A>G NP_000739.1:p.Thr304Ala
XM_017000180.2:c.400A>G XP_016855669.1:p.Thr134Ala
XR_001736952.2:n.1162A>G
NM_000748.3:c.910A>G MANE Select NP_000739.1:p.Thr304Ala
Search 100 bp 5'
Search 100 bp 3'