Canonical Allele Identifier: CA526666201
Gene: CHRNB2 HGNC NCBI

Linked Data

gnomAD v2: 1-154544178-CGT-C
gnomAD v4: 1-154571702-CGT-C
MyVariant Identifiers: chr1:g.154544179_154544180del (hg19) chr1:g.154571703_154571704del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571704_154571705del , CM000663.2:g.154571704_154571705del GRCh38
NC_000001.10:g.154544180_154544181del , CM000663.1:g.154544180_154544181del GRCh37
NC_000001.9:g.152810804_152810805del NCBI36
NG_008027.1:g.8924_8925del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.881_882del MANE Select ENSP00000357461.3:p.Val294AlafsTer?
ENST00000636034.1:c.881_882del ENSP00000489703.1:p.Val294AlafsTer?
ENST00000637900.1:c.887_888del ENSP00000490474.1:p.Val296AlafsTer?
ENST00000368476.3:c.881_882del ENSP00000357461.3:p.Val294AlafsTer?
NM_000748.2:c.881_882del NP_000739.1:p.Val294AlafsTer?
XM_017000180.2:c.371_372del XP_016855669.1:p.Val124AlafsTer?
XR_001736952.2:n.1133_1134del
NM_000748.3:c.881_882del MANE Select NP_000739.1:p.Val294AlafsTer?
Search 100 bp 5'
Search 100 bp 3'