Canonical Allele Identifier: CA2648170643

Gene: CHRNB2

Linked Data

• gnomAD v4: 1-154571699-CGACGTGCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571700_154571708del , CM000663.2:g.154571700_154571708del	GRCh38
NC_000001.10:g.154544176_154544184del , CM000663.1:g.154544176_154544184del	GRCh37
NC_000001.9:g.152810800_152810808del	NCBI36
NG_008027.1:g.8920_8928del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.877_885del MANE Select	ENSP00000357461.3:p.Asp293_Pro295del
ENST00000636034.1:c.877_885del	ENSP00000489703.1:p.Asp293_Pro295del
ENST00000637900.1:c.883_891del	ENSP00000490474.1:p.Asp295_Pro297del
ENST00000368476.3:c.877_885del	ENSP00000357461.3:p.Asp293_Pro295del
NM_000748.2:c.877_885del	NP_000739.1:p.Asp293_Pro295del
XM_017000180.2:c.367_375del	XP_016855669.1:p.Asp123_Pro125del
XR_001736952.2:n.1129_1137del
NM_000748.3:c.877_885del MANE Select	NP_000739.1:p.Asp293_Pro295del