Canonical Allele Identifier: CA342630864

Gene: CHRNB2

Linked Data

• gnomAD v4: 1-154571622-A-G
• MyVariant Identifiers: chr1:g.154544098A>G (hg19) ; chr1:g.154571622A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571622A>G , CM000663.2:g.154571622A>G	GRCh38
NC_000001.10:g.154544098A>G , CM000663.1:g.154544098A>G	GRCh37
NC_000001.9:g.152810722A>G	NCBI36
NG_008027.1:g.8842A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.799A>G MANE Select	ENSP00000357461.3:p.Thr267Ala
ENST00000636034.1:c.799A>G	ENSP00000489703.1:p.Thr267Ala
ENST00000637900.1:c.805A>G	ENSP00000490474.1:p.Thr269Ala
ENST00000368476.3:c.799A>G	ENSP00000357461.3:p.Thr267Ala
NM_000748.2:c.799A>G	NP_000739.1:p.Thr267Ala
XM_017000180.2:c.289A>G	XP_016855669.1:p.Thr97Ala
XR_001736952.2:n.1051A>G
NM_000748.3:c.799A>G MANE Select	NP_000739.1:p.Thr267Ala