Canonical Allele Identifier: CA1130731
Gene: CHRNB2 HGNC NCBI

Linked Data

dbSNP Id: rs780464481
ExAC: 1:154543740 G / T
gnomAD v2: 1-154543740-G-T
gnomAD v3: 1-154571264-G-T
gnomAD v4: 1-154571264-G-T
MyVariant Identifiers: chr1:g.154543740G>T (hg19) chr1:g.154571264G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571264G>T , CM000663.2:g.154571264G>T GRCh38
NC_000001.10:g.154543740G>T , CM000663.1:g.154543740G>T GRCh37
NC_000001.9:g.152810364G>T NCBI36
NG_008027.1:g.8484G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.441G>T MANE Select ENSP00000357461.3:p.Pro147=
ENST00000636034.1:c.441G>T ENSP00000489703.1:p.Pro147=
ENST00000637900.1:c.447G>T ENSP00000490474.1:p.Pro149=
ENST00000368476.3:c.441G>T ENSP00000357461.3:p.Pro147=
NM_000748.2:c.441G>T NP_000739.1:p.Pro147=
XM_017000180.2:c.-9-61G>T XP_016855669.1:n.-9-61G>T
XR_001736952.2:n.693G>T
NM_000748.3:c.441G>T MANE Select NP_000739.1:p.Pro147=
Search 100 bp 5'
Search 100 bp 3'