Canonical Allele Identifier: CA420970288
Gene: CHRNB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.154543686G>A (hg19)

Genomic Alleles

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

Transcript Alleles

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