Canonical Allele Identifier: CA342629882

Gene: CHRNB2

Linked Data

• ClinVar Variation Id: 1710816
• ClinVar RCV Id: RCV002292103
• MyVariant Identifiers: chr1:g.154543672G>T (hg19) ; chr1:g.154571196G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571196G>T , CM000663.2:g.154571196G>T	GRCh38
NC_000001.10:g.154543672G>T , CM000663.1:g.154543672G>T	GRCh37
NC_000001.9:g.152810296G>T	NCBI36
NG_008027.1:g.8416G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.373G>T MANE Select	ENSP00000357461.3:p.Gly125Cys
ENST00000636034.1:c.373G>T	ENSP00000489703.1:p.Gly125Cys
ENST00000637900.1:c.379G>T	ENSP00000490474.1:p.Gly127Cys
ENST00000368476.3:c.373G>T	ENSP00000357461.3:p.Gly125Cys
NM_000748.2:c.373G>T	NP_000739.1:p.Gly125Cys
XM_017000180.2:c.-9-129G>T	XP_016855669.1:n.-9-129G>T
XR_001736952.2:n.625G>T
NM_000748.3:c.373G>T MANE Select	NP_000739.1:p.Gly125Cys