Canonical Allele Identifier: CA2648170583

Gene: CHRNB2

Linked Data

• gnomAD v4: 1-154571680-TCGTGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571682_154571686del , CM000663.2:g.154571682_154571686del	GRCh38
NC_000001.10:g.154544158_154544162del , CM000663.1:g.154544158_154544162del	GRCh37
NC_000001.9:g.152810782_152810786del	NCBI36
NG_008027.1:g.8902_8906del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.859_863del MANE Select	ENSP00000357461.3:p.Val287SerfsTer?
ENST00000636034.1:c.859_863del	ENSP00000489703.1:p.Val287SerfsTer?
ENST00000637900.1:c.865_869del	ENSP00000490474.1:p.Val289SerfsTer?
ENST00000368476.3:c.859_863del	ENSP00000357461.3:p.Val287SerfsTer?
NM_000748.2:c.859_863del	NP_000739.1:p.Val287SerfsTer?
XM_017000180.2:c.349_353del	XP_016855669.1:p.Val117SerfsTer?
XR_001736952.2:n.1111_1115del
NM_000748.3:c.859_863del MANE Select	NP_000739.1:p.Val287SerfsTer?