Canonical Allele Identifier: CA342630250

Gene: CHRNB2

Linked Data

• gnomAD v4: 1-154571356-A-G
• MyVariant Identifiers: chr1:g.154543832A>G (hg19) ; chr1:g.154571356A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571356A>G , CM000663.2:g.154571356A>G	GRCh38
NC_000001.10:g.154543832A>G , CM000663.1:g.154543832A>G	GRCh37
NC_000001.9:g.152810456A>G	NCBI36
NG_008027.1:g.8576A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.533A>G MANE Select	ENSP00000357461.3:p.Tyr178Cys
ENST00000636034.1:c.533A>G	ENSP00000489703.1:p.Tyr178Cys
ENST00000637900.1:c.539A>G	ENSP00000490474.1:p.Tyr180Cys
ENST00000368476.3:c.533A>G	ENSP00000357461.3:p.Tyr178Cys
NM_000748.2:c.533A>G	NP_000739.1:p.Tyr178Cys
XM_017000180.2:c.23A>G	XP_016855669.1:p.Tyr8Cys
XR_001736952.2:n.785A>G
NM_000748.3:c.533A>G MANE Select	NP_000739.1:p.Tyr178Cys