Canonical Allele Identifier: CA342631107

Gene: CHRNB2

Linked Data

• dbSNP Id: rs1199269503
• MyVariant Identifiers: chr1:g.154544215G>T (hg19) ; chr1:g.154571739G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571739G>T , CM000663.2:g.154571739G>T	GRCh38
NC_000001.10:g.154544215G>T , CM000663.1:g.154544215G>T	GRCh37
NC_000001.9:g.152810839G>T	NCBI36
NG_008027.1:g.8959G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.916G>T MANE Select	ENSP00000357461.3:p.Val306Leu
ENST00000636034.1:c.916G>T	ENSP00000489703.1:p.Val306Leu
ENST00000637900.1:c.922G>T	ENSP00000490474.1:p.Val308Leu
ENST00000368476.3:c.916G>T	ENSP00000357461.3:p.Val306Leu
NM_000748.2:c.916G>T	NP_000739.1:p.Val306Leu
XM_017000180.2:c.406G>T	XP_016855669.1:p.Val136Leu
XR_001736952.2:n.1168G>T
NM_000748.3:c.916G>T MANE Select	NP_000739.1:p.Val306Leu