Canonical Allele Identifier: CA342630943

Gene: CHRNB2

Linked Data

• MyVariant Identifiers: chr1:g.154544137C>G (hg19) ; chr1:g.154571661C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571661C>G , CM000663.2:g.154571661C>G	GRCh38
NC_000001.10:g.154544137C>G , CM000663.1:g.154544137C>G	GRCh37
NC_000001.9:g.152810761C>G	NCBI36
NG_008027.1:g.8881C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.838C>G MANE Select	ENSP00000357461.3:p.Leu280Val
ENST00000636034.1:c.838C>G	ENSP00000489703.1:p.Leu280Val
ENST00000637900.1:c.844C>G	ENSP00000490474.1:p.Leu282Val
ENST00000368476.3:c.838C>G	ENSP00000357461.3:p.Leu280Val
NM_000748.2:c.838C>G	NP_000739.1:p.Leu280Val
XM_017000180.2:c.328C>G	XP_016855669.1:p.Leu110Val
XR_001736952.2:n.1090C>G
NM_000748.3:c.838C>G MANE Select	NP_000739.1:p.Leu280Val