Canonical Allele Identifier: CA16042306
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 373511
ClinVar RCV Id: RCV000413172 RCV001220609 RCV002265750
dbSNP Id: rs922186544
gnomAD v3: 1-154571196-G-A
gnomAD v4: 1-154571196-G-A
COSMIC: COSM424001
MyVariant Identifiers: chr1:g.154543672G>A (hg19) chr1:g.154571196G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571196G>A , CM000663.2:g.154571196G>A GRCh38
NC_000001.10:g.154543672G>A , CM000663.1:g.154543672G>A GRCh37
NC_000001.9:g.152810296G>A NCBI36
NG_008027.1:g.8416G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.373G>A MANE Select ENSP00000357461.3:p.Gly125Ser
ENST00000636034.1:c.373G>A ENSP00000489703.1:p.Gly125Ser
ENST00000637900.1:c.379G>A ENSP00000490474.1:p.Gly127Ser
ENST00000368476.3:c.373G>A ENSP00000357461.3:p.Gly125Ser
NM_000748.2:c.373G>A NP_000739.1:p.Gly125Ser
XM_017000180.2:c.-9-129G>A XP_016855669.1:n.-9-129G>A
XR_001736952.2:n.625G>A
NM_000748.3:c.373G>A MANE Select NP_000739.1:p.Gly125Ser
Search 100 bp 5'
Search 100 bp 3'