Canonical Allele Identifier: CA16616984
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418612
ClinVar RCV Id: RCV000486991
dbSNP Id: rs1064793323
gnomAD v4: 1-154571217-T-C
MyVariant Identifiers: chr1:g.154543693T>C (hg19) chr1:g.154571217T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571217T>C , CM000663.2:g.154571217T>C GRCh38
NC_000001.10:g.154543693T>C , CM000663.1:g.154543693T>C GRCh37
NC_000001.9:g.152810317T>C NCBI36
NG_008027.1:g.8437T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.394T>C MANE Select ENSP00000357461.3:p.Tyr132His
ENST00000636034.1:c.394T>C ENSP00000489703.1:p.Tyr132His
ENST00000637900.1:c.400T>C ENSP00000490474.1:p.Tyr134His
ENST00000368476.3:c.394T>C ENSP00000357461.3:p.Tyr132His
NM_000748.2:c.394T>C NP_000739.1:p.Tyr132His
XM_017000180.2:c.-9-108T>C XP_016855669.1:n.-9-108T>C
XR_001736952.2:n.646T>C
NM_000748.3:c.394T>C MANE Select NP_000739.1:p.Tyr132His
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