Canonical Allele Identifier: CA1130745
Gene: CHRNB2 HGNC NCBI

Linked Data

dbSNP Id: rs764809084
ExAC: 1:154543884 C / T
gnomAD v2: 1-154543884-C-T
gnomAD v4: 1-154571408-C-T
MyVariant Identifiers: chr1:g.154543884C>T (hg19) chr1:g.154571408C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571408C>T , CM000663.2:g.154571408C>T GRCh38
NC_000001.10:g.154543884C>T , CM000663.1:g.154543884C>T GRCh37
NC_000001.9:g.152810508C>T NCBI36
NG_008027.1:g.8628C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.585C>T MANE Select ENSP00000357461.3:p.Asp195=
ENST00000636034.1:c.585C>T ENSP00000489703.1:p.Asp195=
ENST00000637900.1:c.591C>T ENSP00000490474.1:p.Asp197=
ENST00000368476.3:c.585C>T ENSP00000357461.3:p.Asp195=
NM_000748.2:c.585C>T NP_000739.1:p.Asp195=
XM_017000180.2:c.75C>T XP_016855669.1:p.Asp25=
XR_001736952.2:n.837C>T
NM_000748.3:c.585C>T MANE Select NP_000739.1:p.Asp195=
Search 100 bp 5'
Search 100 bp 3'