Canonical Allele Identifier: CA526666205
Gene: CHRNB2 HGNC NCBI

Linked Data

gnomAD v2: 1-154544181-GCC-G
gnomAD v4: 1-154571705-GCC-G
MyVariant Identifiers: chr1:g.154544182_154544183del (hg19) chr1:g.154571706_154571707del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571706_154571707del , CM000663.2:g.154571706_154571707del GRCh38
NC_000001.10:g.154544182_154544183del , CM000663.1:g.154544182_154544183del GRCh37
NC_000001.9:g.152810806_152810807del NCBI36
NG_008027.1:g.8926_8927del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.883_884del MANE Select ENSP00000357461.3:p.Pro295AlafsTer?
ENST00000636034.1:c.883_884del ENSP00000489703.1:p.Pro295AlafsTer?
ENST00000637900.1:c.889_890del ENSP00000490474.1:p.Pro297AlafsTer?
ENST00000368476.3:c.883_884del ENSP00000357461.3:p.Pro295AlafsTer?
NM_000748.2:c.883_884del NP_000739.1:p.Pro295AlafsTer?
XM_017000180.2:c.373_374del XP_016855669.1:p.Pro125AlafsTer?
XR_001736952.2:n.1135_1136del
NM_000748.3:c.883_884del MANE Select NP_000739.1:p.Pro295AlafsTer?
Search 100 bp 5'
Search 100 bp 3'