Canonical Allele Identifier: CA421231281
Gene: CHRNB2 HGNC NCBI

Linked Data

gnomAD v4: 1-154571711-C-G
MyVariant Identifiers: chr1:g.154544187C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571711C>G , CM000663.2:g.154571711C>G GRCh38
NC_000001.10:g.154544187C>G , CM000663.1:g.154544187C>G GRCh37
NC_000001.9:g.152810811C>G NCBI36
NG_008027.1:g.8931C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.888C>G MANE Select ENSP00000357461.3:p.Leu296=
ENST00000636034.1:c.888C>G ENSP00000489703.1:p.Leu296=
ENST00000637900.1:c.894C>G ENSP00000490474.1:p.Leu298=
ENST00000368476.3:c.888C>G ENSP00000357461.3:p.Leu296=
NM_000748.2:c.888C>G NP_000739.1:p.Leu296=
XM_017000180.2:c.378C>G XP_016855669.1:p.Leu126=
XR_001736952.2:n.1140C>G
NM_000748.3:c.888C>G MANE Select NP_000739.1:p.Leu296=
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