Canonical Allele Identifier: CA421231048
Gene: CHRNB2 HGNC NCBI

Linked Data

dbSNP Id: rs1378876968
gnomAD v2: 1-154544256-C-A
gnomAD v4: 1-154571780-C-A
MyVariant Identifiers: chr1:g.154544256C>A (hg19) chr1:g.154571780C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571780C>A , CM000663.2:g.154571780C>A GRCh38
NC_000001.10:g.154544256C>A , CM000663.1:g.154544256C>A GRCh37
NC_000001.9:g.152810880C>A NCBI36
NG_008027.1:g.9000C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.957C>A MANE Select ENSP00000357461.3:p.Leu319=
ENST00000636034.1:c.957C>A ENSP00000489703.1:p.Leu319=
ENST00000637900.1:c.963C>A ENSP00000490474.1:p.Leu321=
ENST00000368476.3:c.957C>A ENSP00000357461.3:p.Leu319=
NM_000748.2:c.957C>A NP_000739.1:p.Leu319=
XM_017000180.2:c.447C>A XP_016855669.1:p.Leu149=
XR_001736952.2:n.1209C>A
NM_000748.3:c.957C>A MANE Select NP_000739.1:p.Leu319=
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