Canonical Allele Identifier: CA526666204
Gene: CHRNB2 HGNC NCBI

Linked Data

gnomAD v2: 1-154544180-T-TA
gnomAD v4: 1-154571704-T-TA
MyVariant Identifiers: chr1:g.154544181_154544182delinsAGC (hg19) chr1:g.154571705_154571706delinsAGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571704_154571705insA , CM000663.2:g.154571704_154571705insA GRCh38
NC_000001.10:g.154544180_154544181insA , CM000663.1:g.154544180_154544181insA GRCh37
NC_000001.9:g.152810804_152810805insA NCBI36
NG_008027.1:g.8924_8925insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.881_882insA MANE Select ENSP00000357461.3:p.Pro295AlafsTer?
ENST00000636034.1:c.881_882insA ENSP00000489703.1:p.Pro295AlafsTer?
ENST00000637900.1:c.887_888insA ENSP00000490474.1:p.Pro297AlafsTer?
ENST00000368476.3:c.881_882insA ENSP00000357461.3:p.Pro295AlafsTer?
NM_000748.2:c.881_882insA NP_000739.1:p.Pro295AlafsTer?
XM_017000180.2:c.371_372insA XP_016855669.1:p.Pro125AlafsTer?
XR_001736952.2:n.1133_1134insA
NM_000748.3:c.881_882insA MANE Select NP_000739.1:p.Pro295AlafsTer?
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