Canonical Allele Identifier: CA2648173328
Gene: CHRNB2 HGNC NCBI

Linked Data

gnomAD v4: 1-154576192-AAGGCTGCTAAGTGGAAGACAGAGATGGC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154576195_154576222del , CM000663.2:g.154576195_154576222del GRCh38
NC_000001.10:g.154548671_154548698del , CM000663.1:g.154548671_154548698del GRCh37
NC_000001.9:g.152815295_152815322del NCBI36
NG_008027.1:g.13415_13442del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.*263_*290del MANE Select ENSP00000357461.3:n.*263_*290del
ENST00000636034.1:c.1505+267_1505+294del ENSP00000489703.1:n.1505+267_1505+294del
ENST00000637900.1:c.*263_*290del ENSP00000490474.1:n.*263_*290del
ENST00000368476.3:c.*263_*290del ENSP00000357461.3:n.*263_*290del
NM_000748.2:c.*263_*290del NP_000739.1:n.*263_*290del
XM_017000180.2:c.*263_*290del XP_016855669.1:n.*263_*290del
XR_001736952.2:n.2024_2051del
NM_000748.3:c.*263_*290del MANE Select NP_000739.1:n.*263_*290del
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