Canonical Allele Identifier: CA2648170678

Gene: CHRNB2

Linked Data

• gnomAD v4: 1-154571704-TGCCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571705_154571708del , CM000663.2:g.154571705_154571708del	GRCh38
NC_000001.10:g.154544181_154544184del , CM000663.1:g.154544181_154544184del	GRCh37
NC_000001.9:g.152810805_152810808del	NCBI36
NG_008027.1:g.8925_8928del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.882_885del MANE Select	ENSP00000357461.3:p.Pro295SerfsTer?
ENST00000636034.1:c.882_885del	ENSP00000489703.1:p.Pro295SerfsTer?
ENST00000637900.1:c.888_891del	ENSP00000490474.1:p.Pro297SerfsTer?
ENST00000368476.3:c.882_885del	ENSP00000357461.3:p.Pro295SerfsTer?
NM_000748.2:c.882_885del	NP_000739.1:p.Pro295SerfsTer?
XM_017000180.2:c.372_375del	XP_016855669.1:p.Pro125SerfsTer?
XR_001736952.2:n.1134_1137del
NM_000748.3:c.882_885del MANE Select	NP_000739.1:p.Pro295SerfsTer?