Canonical Allele Identifier: CA2648172984
Gene: CHRNB2 HGNC NCBI

Linked Data

gnomAD v4: 1-154576057-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154576057T>C , CM000663.2:g.154576057T>C GRCh38
NC_000001.10:g.154548533T>C , CM000663.1:g.154548533T>C GRCh37
NC_000001.9:g.152815157T>C NCBI36
NG_008027.1:g.13277T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.*125T>C MANE Select ENSP00000357461.3:n.*125T>C
ENST00000636034.1:c.1505+129T>C ENSP00000489703.1:n.1505+129T>C
ENST00000637900.1:c.*125T>C ENSP00000490474.1:n.*125T>C
ENST00000368476.3:c.*125T>C ENSP00000357461.3:n.*125T>C
NM_000748.2:c.*125T>C NP_000739.1:n.*125T>C
XM_017000180.2:c.*125T>C XP_016855669.1:n.*125T>C
XR_001736952.2:n.1886T>C
NM_000748.3:c.*125T>C MANE Select NP_000739.1:n.*125T>C
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