Canonical Allele Identifier: CA342631045

Gene: CHRNB2

Linked Data

• MyVariant Identifiers: chr1:g.154544188G>T (hg19) ; chr1:g.154571712G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571712G>T , CM000663.2:g.154571712G>T	GRCh38
NC_000001.10:g.154544188G>T , CM000663.1:g.154544188G>T	GRCh37
NC_000001.9:g.152810812G>T	NCBI36
NG_008027.1:g.8932G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.889G>T MANE Select	ENSP00000357461.3:p.Val297Phe
ENST00000636034.1:c.889G>T	ENSP00000489703.1:p.Val297Phe
ENST00000637900.1:c.895G>T	ENSP00000490474.1:p.Val299Phe
ENST00000368476.3:c.889G>T	ENSP00000357461.3:p.Val297Phe
NM_000748.2:c.889G>T	NP_000739.1:p.Val297Phe
XM_017000180.2:c.379G>T	XP_016855669.1:p.Val127Phe
XR_001736952.2:n.1141G>T
NM_000748.3:c.889G>T MANE Select	NP_000739.1:p.Val297Phe