Canonical Allele Identifier: CA2648170517

Gene: CHRNB2

Linked Data

• gnomAD v4: 1-154571665-TGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571666_154571667del , CM000663.2:g.154571666_154571667del	GRCh38
NC_000001.10:g.154544142_154544143del , CM000663.1:g.154544142_154544143del	GRCh37
NC_000001.9:g.152810766_152810767del	NCBI36
NG_008027.1:g.8886_8887del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.843_844del MANE Select	ENSP00000357461.3:p.Leu282HisfsTer?
ENST00000636034.1:c.843_844del	ENSP00000489703.1:p.Leu282HisfsTer?
ENST00000637900.1:c.849_850del	ENSP00000490474.1:p.Leu284HisfsTer?
ENST00000368476.3:c.843_844del	ENSP00000357461.3:p.Leu282HisfsTer?
NM_000748.2:c.843_844del	NP_000739.1:p.Leu282HisfsTer?
XM_017000180.2:c.333_334del	XP_016855669.1:p.Leu112HisfsTer?
XR_001736952.2:n.1095_1096del
NM_000748.3:c.843_844del MANE Select	NP_000739.1:p.Leu282HisfsTer?