Canonical Allele Identifier: CA2648170514

Gene: CHRNB2

Linked Data

• gnomAD v4: 1-154571662-T-TTTTTTTTTTTAATGATACG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571662_154571663insTTTTTTTTTTAATGATACG , CM000663.2:g.154571662_154571663insTTTTTTTTTTAATGATACG	GRCh38
NC_000001.10:g.154544138_154544139insTTTTTTTTTTAATGATACG , CM000663.1:g.154544138_154544139insTTTTTTTTTTAATGATACG	GRCh37
NC_000001.9:g.152810762_152810763insTTTTTTTTTTAATGATACG	NCBI36
NG_008027.1:g.8882_8883insTTTTTTTTTTAATGATACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.839_840insTTTTTTTTTTAATGATACG MANE Select	ENSP00000357461.3:p.Leu281PhefsTer?
ENST00000636034.1:c.839_840insTTTTTTTTTTAATGATACG	ENSP00000489703.1:p.Leu281PhefsTer?
ENST00000637900.1:c.845_846insTTTTTTTTTTAATGATACG	ENSP00000490474.1:p.Leu283PhefsTer?
ENST00000368476.3:c.839_840insTTTTTTTTTTAATGATACG	ENSP00000357461.3:p.Leu281PhefsTer?
NM_000748.2:c.839_840insTTTTTTTTTTAATGATACG	NP_000739.1:p.Leu281PhefsTer?
XM_017000180.2:c.329_330insTTTTTTTTTTAATGATACG	XP_016855669.1:p.Leu111PhefsTer?
XR_001736952.2:n.1091_1092insTTTTTTTTTTAATGATACG
NM_000748.3:c.839_840insTTTTTTTTTTAATGATACG MANE Select	NP_000739.1:p.Leu281PhefsTer?