Canonical Allele Identifier: CA342631139
Gene: CHRNB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.154544233A>C (hg19) chr1:g.154571757A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571757A>C , CM000663.2:g.154571757A>C GRCh38
NC_000001.10:g.154544233A>C , CM000663.1:g.154544233A>C GRCh37
NC_000001.9:g.152810857A>C NCBI36
NG_008027.1:g.8977A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.934A>C MANE Select ENSP00000357461.3:p.Ile312Leu
ENST00000636034.1:c.934A>C ENSP00000489703.1:p.Ile312Leu
ENST00000637900.1:c.940A>C ENSP00000490474.1:p.Ile314Leu
ENST00000368476.3:c.934A>C ENSP00000357461.3:p.Ile312Leu
NM_000748.2:c.934A>C NP_000739.1:p.Ile312Leu
XM_017000180.2:c.424A>C XP_016855669.1:p.Ile142Leu
XR_001736952.2:n.1186A>C
NM_000748.3:c.934A>C MANE Select NP_000739.1:p.Ile312Leu
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