Canonical Allele Identifier: CA1130747
Gene: CHRNB2 HGNC NCBI

Linked Data

dbSNP Id: rs763511654
ExAC: 1:154543898 G / C
gnomAD v2: 1-154543898-G-C
gnomAD v4: 1-154571422-G-C
MyVariant Identifiers: chr1:g.154543898G>C (hg19) chr1:g.154571422G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571422G>C , CM000663.2:g.154571422G>C GRCh38
NC_000001.10:g.154543898G>C , CM000663.1:g.154543898G>C GRCh37
NC_000001.9:g.152810522G>C NCBI36
NG_008027.1:g.8642G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.599G>C MANE Select ENSP00000357461.3:p.Ser200Thr
ENST00000636034.1:c.599G>C ENSP00000489703.1:p.Ser200Thr
ENST00000637900.1:c.605G>C ENSP00000490474.1:p.Ser202Thr
ENST00000368476.3:c.599G>C ENSP00000357461.3:p.Ser200Thr
NM_000748.2:c.599G>C NP_000739.1:p.Ser200Thr
XM_017000180.2:c.89G>C XP_016855669.1:p.Ser30Thr
XR_001736952.2:n.851G>C
NM_000748.3:c.599G>C MANE Select NP_000739.1:p.Ser200Thr
Search 100 bp 5'
Search 100 bp 3'