Canonical Allele Identifier: CA420970291

Gene: CHRNB2

Linked Data

• dbSNP Id: rs2101520229
• MyVariant Identifiers: chr1:g.154543686G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571210G>T , CM000663.2:g.154571210G>T	GRCh38
NC_000001.10:g.154543686G>T , CM000663.1:g.154543686G>T	GRCh37
NC_000001.9:g.152810310G>T	NCBI36
NG_008027.1:g.8430G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.387G>T MANE Select	ENSP00000357461.3:p.Val129=
ENST00000636034.1:c.387G>T	ENSP00000489703.1:p.Val129=
ENST00000637900.1:c.393G>T	ENSP00000490474.1:p.Val131=
ENST00000368476.3:c.387G>T	ENSP00000357461.3:p.Val129=
NM_000748.2:c.387G>T	NP_000739.1:p.Val129=
XM_017000180.2:c.-9-115G>T	XP_016855669.1:n.-9-115G>T
XR_001736952.2:n.639G>T
NM_000748.3:c.387G>T MANE Select	NP_000739.1:p.Val129=