Canonical Allele Identifier: CA1130792
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 569750
ClinVar RCV Id: RCV000690456 RCV004025054
dbSNP Id: rs754992449
ExAC: 1:154544191 G / A
gnomAD v2: 1-154544191-G-A
gnomAD v4: 1-154571715-G-A
MyVariant Identifiers: chr1:g.154544191G>A (hg19) chr1:g.154571715G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571715G>A , CM000663.2:g.154571715G>A GRCh38
NC_000001.10:g.154544191G>A , CM000663.1:g.154544191G>A GRCh37
NC_000001.9:g.152810815G>A NCBI36
NG_008027.1:g.8935G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.892G>A MANE Select ENSP00000357461.3:p.Gly298Ser
ENST00000636034.1:c.892G>A ENSP00000489703.1:p.Gly298Ser
ENST00000637900.1:c.898G>A ENSP00000490474.1:p.Gly300Ser
ENST00000368476.3:c.892G>A ENSP00000357461.3:p.Gly298Ser
NM_000748.2:c.892G>A NP_000739.1:p.Gly298Ser
XM_017000180.2:c.382G>A XP_016855669.1:p.Gly128Ser
XR_001736952.2:n.1144G>A
NM_000748.3:c.892G>A MANE Select NP_000739.1:p.Gly298Ser
Search 100 bp 5'
Search 100 bp 3'