Canonical Allele Identifier: CA342630951
Gene: CHRNB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.154544141T>A (hg19) chr1:g.154571665T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571665T>A , CM000663.2:g.154571665T>A GRCh38
NC_000001.10:g.154544141T>A , CM000663.1:g.154544141T>A GRCh37
NC_000001.9:g.152810765T>A NCBI36
NG_008027.1:g.8885T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.842T>A MANE Select ENSP00000357461.3:p.Leu281Gln
ENST00000636034.1:c.842T>A ENSP00000489703.1:p.Leu281Gln
ENST00000637900.1:c.848T>A ENSP00000490474.1:p.Leu283Gln
ENST00000368476.3:c.842T>A ENSP00000357461.3:p.Leu281Gln
NM_000748.2:c.842T>A NP_000739.1:p.Leu281Gln
XM_017000180.2:c.332T>A XP_016855669.1:p.Leu111Gln
XR_001736952.2:n.1094T>A
NM_000748.3:c.842T>A MANE Select NP_000739.1:p.Leu281Gln
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