Canonical Allele Identifier: CA526666199
Gene: CHRNB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571702_154571703del , CM000663.2:g.154571702_154571703del GRCh38
NC_000001.10:g.154544178_154544179del , CM000663.1:g.154544178_154544179del GRCh37
NC_000001.9:g.152810802_152810803del NCBI36
NG_008027.1:g.8922_8923del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.879_880del MANE Select ENSP00000357461.3:p.Val294AlafsTer?
ENST00000636034.1:c.879_880del ENSP00000489703.1:p.Val294AlafsTer?
ENST00000637900.1:c.885_886del ENSP00000490474.1:p.Val296AlafsTer?
ENST00000368476.3:c.879_880del ENSP00000357461.3:p.Val294AlafsTer?
NM_000748.2:c.879_880del NP_000739.1:p.Val294AlafsTer?
XM_017000180.2:c.369_370del XP_016855669.1:p.Val124AlafsTer?
XR_001736952.2:n.1131_1132del
NM_000748.3:c.879_880del MANE Select NP_000739.1:p.Val294AlafsTer?