Canonical Allele Identifier: CA2648170619

Gene: CHRNB2

Linked Data

• gnomAD v4: 1-154571692-C-CTA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571692_154571693insTA , CM000663.2:g.154571692_154571693insTA	GRCh38
NC_000001.10:g.154544168_154544169insTA , CM000663.1:g.154544168_154544169insTA	GRCh37
NC_000001.9:g.152810792_152810793insTA	NCBI36
NG_008027.1:g.8912_8913insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.869_870insTA MANE Select	ENSP00000357461.3:p.Ser291ThrfsTer?
ENST00000636034.1:c.869_870insTA	ENSP00000489703.1:p.Ser291ThrfsTer?
ENST00000637900.1:c.875_876insTA	ENSP00000490474.1:p.Ser293ThrfsTer?
ENST00000368476.3:c.869_870insTA	ENSP00000357461.3:p.Ser291ThrfsTer?
NM_000748.2:c.869_870insTA	NP_000739.1:p.Ser291ThrfsTer?
XM_017000180.2:c.359_360insTA	XP_016855669.1:p.Ser121ThrfsTer?
XR_001736952.2:n.1121_1122insTA
NM_000748.3:c.869_870insTA MANE Select	NP_000739.1:p.Ser291ThrfsTer?