Canonical Allele Identifier: CA2648170598
Gene: CHRNB2 HGNC NCBI

Linked Data

gnomAD v4: 1-154571681-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571682del , CM000663.2:g.154571682del GRCh38
NC_000001.10:g.154544158del , CM000663.1:g.154544158del GRCh37
NC_000001.9:g.152810782del NCBI36
NG_008027.1:g.8902del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.859del MANE Select ENSP00000357461.3:p.Val287CysfsTer?
ENST00000636034.1:c.859del ENSP00000489703.1:p.Val287CysfsTer?
ENST00000637900.1:c.865del ENSP00000490474.1:p.Val289CysfsTer?
ENST00000368476.3:c.859del ENSP00000357461.3:p.Val287CysfsTer?
NM_000748.2:c.859del NP_000739.1:p.Val287CysfsTer?
XM_017000180.2:c.349del XP_016855669.1:p.Val117CysfsTer?
XR_001736952.2:n.1111del
NM_000748.3:c.859del MANE Select NP_000739.1:p.Val287CysfsTer?
Search 100 bp 5'
Search 100 bp 3'