Canonical Allele Identifier: CA2648170663
Gene: CHRNB2 HGNC NCBI

Linked Data

gnomAD v4: 1-154571702-CGTGCCG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571703_154571708del , CM000663.2:g.154571703_154571708del GRCh38
NC_000001.10:g.154544179_154544184del , CM000663.1:g.154544179_154544184del GRCh37
NC_000001.9:g.152810803_152810808del NCBI36
NG_008027.1:g.8923_8928del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.880_885del MANE Select ENSP00000357461.3:p.Val294_Pro295del
ENST00000636034.1:c.880_885del ENSP00000489703.1:p.Val294_Pro295del
ENST00000637900.1:c.886_891del ENSP00000490474.1:p.Val296_Pro297del
ENST00000368476.3:c.880_885del ENSP00000357461.3:p.Val294_Pro295del
NM_000748.2:c.880_885del NP_000739.1:p.Val294_Pro295del
XM_017000180.2:c.370_375del XP_016855669.1:p.Val124_Pro125del
XR_001736952.2:n.1132_1137del
NM_000748.3:c.880_885del MANE Select NP_000739.1:p.Val294_Pro295del
Search 100 bp 5'
Search 100 bp 3'