Canonical Allele Identifier: CA342630990

Gene: CHRNB2

Linked Data

• ClinVar Variation Id: 2713423
• ClinVar RCV Id: RCV003583390
• MyVariant Identifiers: chr1:g.154544162C>T (hg19) ; chr1:g.154571686C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571686C>T , CM000663.2:g.154571686C>T	GRCh38
NC_000001.10:g.154544162C>T , CM000663.1:g.154544162C>T	GRCh37
NC_000001.9:g.152810786C>T	NCBI36
NG_008027.1:g.8906C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.863C>T MANE Select	ENSP00000357461.3:p.Pro288Leu
ENST00000636034.1:c.863C>T	ENSP00000489703.1:p.Pro288Leu
ENST00000637900.1:c.869C>T	ENSP00000490474.1:p.Pro290Leu
ENST00000368476.3:c.863C>T	ENSP00000357461.3:p.Pro288Leu
NM_000748.2:c.863C>T	NP_000739.1:p.Pro288Leu
XM_017000180.2:c.353C>T	XP_016855669.1:p.Pro118Leu
XR_001736952.2:n.1115C>T
NM_000748.3:c.863C>T MANE Select	NP_000739.1:p.Pro288Leu