Canonical Allele Identifier: CA2746189173

Gene: CHRNB2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571703del , CM000663.2:g.154571703del	GRCh38
NC_000001.10:g.154544179del , CM000663.1:g.154544179del	GRCh37
NC_000001.9:g.152810803del	NCBI36
NG_008027.1:g.8923del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.880del MANE Select	ENSP00000357461.3:p.Val294CysfsTer?
ENST00000636034.1:c.880del	ENSP00000489703.1:p.Val294CysfsTer?
ENST00000637900.1:c.886del	ENSP00000490474.1:p.Val296CysfsTer?
ENST00000368476.3:c.880del	ENSP00000357461.3:p.Val294CysfsTer?
NM_000748.2:c.880del	NP_000739.1:p.Val294CysfsTer?
XM_017000180.2:c.370del	XP_016855669.1:p.Val124CysfsTer?
XR_001736952.2:n.1132del
NM_000748.3:c.880del MANE Select	NP_000739.1:p.Val294CysfsTer?