Canonical Allele Identifier: CA1007917873
Gene: CHRNB2 HGNC NCBI

Linked Data

gnomAD v3: 1-154576068-TCCCTCCTCCCCC-T
gnomAD v4: 1-154576068-TCCCTCCTCCCCC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154576069_154576080del , CM000663.2:g.154576069_154576080del GRCh38
NC_000001.10:g.154548545_154548556del , CM000663.1:g.154548545_154548556del GRCh37
NC_000001.9:g.152815169_152815180del NCBI36
NG_008027.1:g.13289_13300del

Transcript Alleles

HGVS Amino-acid change
ENST00000368476.4:c.*137_*148del MANE Select ENSP00000357461.3:n.*137_*148del
ENST00000636034.1:c.1505+141_1505+152del ENSP00000489703.1:n.1505+141_1505+152del
ENST00000637900.1:c.*137_*148del ENSP00000490474.1:n.*137_*148del
ENST00000368476.3:c.*137_*148del ENSP00000357461.3:n.*137_*148del
NM_000748.2:c.*137_*148del NP_000739.1:n.*137_*148del
XM_017000180.2:c.*137_*148del XP_016855669.1:n.*137_*148del
XR_001736952.2:n.1898_1909del
NM_000748.3:c.*137_*148del MANE Select NP_000739.1:n.*137_*148del
Search 100 bp 5'
Search 100 bp 3'