Canonical Allele Identifier: CA421231337

Gene: CHRNB2

Linked Data

• dbSNP Id: rs1484238390
• gnomAD v2: 1-154544220-T-C
• MyVariant Identifiers: chr1:g.154544220T>C (hg19) ; chr1:g.154571744T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571744T>C , CM000663.2:g.154571744T>C	GRCh38
NC_000001.10:g.154544220T>C , CM000663.1:g.154544220T>C	GRCh37
NC_000001.9:g.152810844T>C	NCBI36
NG_008027.1:g.8964T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.921T>C MANE Select	ENSP00000357461.3:p.Leu307=
ENST00000636034.1:c.921T>C	ENSP00000489703.1:p.Leu307=
ENST00000637900.1:c.927T>C	ENSP00000490474.1:p.Leu309=
ENST00000368476.3:c.921T>C	ENSP00000357461.3:p.Leu307=
NM_000748.2:c.921T>C	NP_000739.1:p.Leu307=
XM_017000180.2:c.411T>C	XP_016855669.1:p.Leu137=
XR_001736952.2:n.1173T>C
NM_000748.3:c.921T>C MANE Select	NP_000739.1:p.Leu307=