Canonical Allele Identifier: CA2648169730

Gene: CHRNB2

Linked Data

• gnomAD v4: 1-154571339-G-GTTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571340_154571343dup , CM000663.2:g.154571340_154571343dup	GRCh38
NC_000001.10:g.154543816_154543819dup , CM000663.1:g.154543816_154543819dup	GRCh37
NC_000001.9:g.152810440_152810443dup	NCBI36
NG_008027.1:g.8560_8563dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.517_520dup MANE Select	ENSP00000357461.3:p.Arg174LeufsTer18
ENST00000636034.1:c.517_520dup	ENSP00000489703.1:p.Arg174LeufsTer18
ENST00000637900.1:c.523_526dup	ENSP00000490474.1:p.Arg176LeufsTer18
ENST00000368476.3:c.517_520dup	ENSP00000357461.3:p.Arg174LeufsTer18
NM_000748.2:c.517_520dup	NP_000739.1:p.Arg174LeufsTer18
XM_017000180.2:c.7_10dup	XP_016855669.1:p.Arg4LeufsTer18
XR_001736952.2:n.769_772dup
NM_000748.3:c.517_520dup MANE Select	NP_000739.1:p.Arg174LeufsTer18