Canonical Allele Identifier: CA2480925185
Gene: CHRNB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571212_154571215delinsCCTT , CM000663.2:g.154571212_154571215delinsCCTT GRCh38
NC_000001.10:g.154543688_154543691delinsCCTT , CM000663.1:g.154543688_154543691delinsCCTT GRCh37
NC_000001.9:g.152810312_152810315delinsCCTT NCBI36
NG_008027.1:g.8432_8435delinsCCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.389_392delinsCCTT MANE Select ENSP00000357461.3:p.Ser130=
ENST00000636034.1:c.389_392delinsCCTT ENSP00000489703.1:p.Ser130=
ENST00000637900.1:c.395_398delinsCCTT ENSP00000490474.1:p.Ser132=
ENST00000368476.3:c.389_392delinsCCTT ENSP00000357461.3:p.Ser130=
NM_000748.2:c.389_392delinsCCTT NP_000739.1:p.Ser130=
XM_017000180.2:c.-9-113_-9-110delinsCCTT XP_016855669.1:n.-9-113_-9-110delinsCCTT
XR_001736952.2:n.641_644delinsCCTT
NM_000748.3:c.389_392delinsCCTT MANE Select NP_000739.1:p.Ser130=