Canonical Allele Identifier: CA2648170662

Gene: CHRNB2

Linked Data

• gnomAD v4: 1-154571702-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571702_154571703insA , CM000663.2:g.154571702_154571703insA	GRCh38
NC_000001.10:g.154544178_154544179insA , CM000663.1:g.154544178_154544179insA	GRCh37
NC_000001.9:g.152810802_152810803insA	NCBI36
NG_008027.1:g.8922_8923insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.879_880insA MANE Select	ENSP00000357461.3:p.Val294SerfsTer?
ENST00000636034.1:c.879_880insA	ENSP00000489703.1:p.Val294SerfsTer?
ENST00000637900.1:c.885_886insA	ENSP00000490474.1:p.Val296SerfsTer?
ENST00000368476.3:c.879_880insA	ENSP00000357461.3:p.Val294SerfsTer?
NM_000748.2:c.879_880insA	NP_000739.1:p.Val294SerfsTer?
XM_017000180.2:c.369_370insA	XP_016855669.1:p.Val124SerfsTer?
XR_001736952.2:n.1131_1132insA
NM_000748.3:c.879_880insA MANE Select	NP_000739.1:p.Val294SerfsTer?