Canonical Allele Identifier: CA2648170557
Gene: CHRNB2 HGNC NCBI

Linked Data

gnomAD v4: 1-154571670-ATCT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571671_154571673del , CM000663.2:g.154571671_154571673del GRCh38
NC_000001.10:g.154544147_154544149del , CM000663.1:g.154544147_154544149del GRCh37
NC_000001.9:g.152810771_152810773del NCBI36
NG_008027.1:g.8891_8893del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.848_850del MANE Select ENSP00000357461.3:p.Ile283_Ser284delinsThr
ENST00000636034.1:c.848_850del ENSP00000489703.1:p.Ile283_Ser284delinsThr
ENST00000637900.1:c.854_856del ENSP00000490474.1:p.Ile285_Ser286delinsThr
ENST00000368476.3:c.848_850del ENSP00000357461.3:p.Ile283_Ser284delinsThr
NM_000748.2:c.848_850del NP_000739.1:p.Ile283_Ser284delinsThr
XM_017000180.2:c.338_340del XP_016855669.1:p.Ile113_Ser114delinsThr
XR_001736952.2:n.1100_1102del
NM_000748.3:c.848_850del MANE Select NP_000739.1:p.Ile283_Ser284delinsThr
Search 100 bp 5'
Search 100 bp 3'