Canonical Allele Identifier: CA342630975

Gene: CHRNB2

Linked Data

• dbSNP Id: rs1245009047
• gnomAD v2: 1-154544153-A-T
• gnomAD v4: 1-154571677-A-T
• MyVariant Identifiers: chr1:g.154544153A>T (hg19) ; chr1:g.154571677A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571677A>T , CM000663.2:g.154571677A>T	GRCh38
NC_000001.10:g.154544153A>T , CM000663.1:g.154544153A>T	GRCh37
NC_000001.9:g.152810777A>T	NCBI36
NG_008027.1:g.8897A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.854A>T MANE Select	ENSP00000357461.3:p.Lys285Met
ENST00000636034.1:c.854A>T	ENSP00000489703.1:p.Lys285Met
ENST00000637900.1:c.860A>T	ENSP00000490474.1:p.Lys287Met
ENST00000368476.3:c.854A>T	ENSP00000357461.3:p.Lys285Met
NM_000748.2:c.854A>T	NP_000739.1:p.Lys285Met
XM_017000180.2:c.344A>T	XP_016855669.1:p.Lys115Met
XR_001736952.2:n.1106A>T
NM_000748.3:c.854A>T MANE Select	NP_000739.1:p.Lys285Met