Canonical Allele Identifier: CA313639

Gene: CHRNB2

Linked Data

• ClinVar Variation Id: 205061
• ClinVar RCV Id: RCV000186981 ; RCV000531578 ; RCV001704976 ; RCV002314695
• dbSNP Id: rs71651692
• ExAC: 1:154541950 C / T
• gnomAD v2: 1-154541950-C-T
• gnomAD v3: 1-154569474-C-T
• gnomAD v4: 1-154569474-C-T
• MyVariant Identifiers: chr1:g.154541950C>T (hg19) ; chr1:g.154569474C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154569474C>T , CM000663.2:g.154569474C>T	GRCh38
NC_000001.10:g.154541950C>T , CM000663.1:g.154541950C>T	GRCh37
NC_000001.9:g.152808574C>T	NCBI36
NG_008027.1:g.6694C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.77C>T MANE Select	ENSP00000357461.3:p.Thr26Met
ENST00000636034.1:c.77C>T	ENSP00000489703.1:p.Thr26Met
ENST00000637900.1:c.77C>T	ENSP00000490474.1:p.Thr26Met
ENST00000368476.3:c.77C>T	ENSP00000357461.3:p.Thr26Met
NM_000748.2:c.77C>T	NP_000739.1:p.Thr26Met
XM_017000180.2:c.-298C>T	XP_016855669.1:n.-298C>T
XR_001736952.2:n.329C>T
NM_000748.3:c.77C>T MANE Select	NP_000739.1:p.Thr26Met