Canonical Allele Identifier: CA2648170636
Gene: CHRNB2 HGNC NCBI

Linked Data

gnomAD v4: 1-154571698-TCGACGTGCC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571699_154571707del , CM000663.2:g.154571699_154571707del GRCh38
NC_000001.10:g.154544175_154544183del , CM000663.1:g.154544175_154544183del GRCh37
NC_000001.9:g.152810799_152810807del NCBI36
NG_008027.1:g.8919_8927del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.876_884del MANE Select ENSP00000357461.3:p.Asp293_Pro295del
ENST00000636034.1:c.876_884del ENSP00000489703.1:p.Asp293_Pro295del
ENST00000637900.1:c.882_890del ENSP00000490474.1:p.Asp295_Pro297del
ENST00000368476.3:c.876_884del ENSP00000357461.3:p.Asp293_Pro295del
NM_000748.2:c.876_884del NP_000739.1:p.Asp293_Pro295del
XM_017000180.2:c.366_374del XP_016855669.1:p.Asp123_Pro125del
XR_001736952.2:n.1128_1136del
NM_000748.3:c.876_884del MANE Select NP_000739.1:p.Asp293_Pro295del
Search 100 bp 5'
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