Canonical Allele Identifier: CA30834444
Gene: CHRNB2 HGNC NCBI

Linked Data

dbSNP Id: rs199891624
MyVariant Identifiers: chr1:g.154543978G>A (hg19) chr1:g.154571502G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571502G>A , CM000663.2:g.154571502G>A GRCh38
NC_000001.10:g.154543978G>A , CM000663.1:g.154543978G>A GRCh37
NC_000001.9:g.152810602G>A NCBI36
NG_008027.1:g.8722G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.679G>A MANE Select ENSP00000357461.3:p.Asp227Asn
ENST00000636034.1:c.679G>A ENSP00000489703.1:p.Asp227Asn
ENST00000637900.1:c.685G>A ENSP00000490474.1:p.Asp229Asn
ENST00000368476.3:c.679G>A ENSP00000357461.3:p.Asp227Asn
NM_000748.2:c.679G>A NP_000739.1:p.Asp227Asn
XM_017000180.2:c.169G>A XP_016855669.1:p.Asp57Asn
XR_001736952.2:n.931G>A
NM_000748.3:c.679G>A MANE Select NP_000739.1:p.Asp227Asn
Search 100 bp 5'
Search 100 bp 3'