Canonical Allele Identifier: CA2697554563
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2761394
ClinVar RCV Id: RCV003583908
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571343dup , CM000663.2:g.154571343dup GRCh38
NC_000001.10:g.154543819dup , CM000663.1:g.154543819dup GRCh37
NC_000001.9:g.152810443dup NCBI36
NG_008027.1:g.8563dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.520dup MANE Select ENSP00000357461.3:p.Arg174ProfsTer17
ENST00000636034.1:c.520dup ENSP00000489703.1:p.Arg174ProfsTer17
ENST00000637900.1:c.526dup ENSP00000490474.1:p.Arg176ProfsTer17
ENST00000368476.3:c.520dup ENSP00000357461.3:p.Arg174ProfsTer17
NM_000748.2:c.520dup NP_000739.1:p.Arg174ProfsTer17
XM_017000180.2:c.10dup XP_016855669.1:p.Arg4ProfsTer17
XR_001736952.2:n.772dup
NM_000748.3:c.520dup MANE Select NP_000739.1:p.Arg174ProfsTer17
Search 100 bp 5'
Search 100 bp 3'