Canonical Allele Identifier: CA421231346

Gene: CHRNB2

Linked Data

• gnomAD v4: 1-154571747-C-G
• MyVariant Identifiers: chr1:g.154544223C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571747C>G , CM000663.2:g.154571747C>G	GRCh38
NC_000001.10:g.154544223C>G , CM000663.1:g.154544223C>G	GRCh37
NC_000001.9:g.152810847C>G	NCBI36
NG_008027.1:g.8967C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.924C>G MANE Select	ENSP00000357461.3:p.Val308=
ENST00000636034.1:c.924C>G	ENSP00000489703.1:p.Val308=
ENST00000637900.1:c.930C>G	ENSP00000490474.1:p.Val310=
ENST00000368476.3:c.924C>G	ENSP00000357461.3:p.Val308=
NM_000748.2:c.924C>G	NP_000739.1:p.Val308=
XM_017000180.2:c.414C>G	XP_016855669.1:p.Val138=
XR_001736952.2:n.1176C>G
NM_000748.3:c.924C>G MANE Select	NP_000739.1:p.Val308=