Canonical Allele Identifier: CA1130727
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2162932
ClinVar RCV Id: RCV003070496
dbSNP Id: rs376567330
ExAC: 1:154543710 C / T
gnomAD v2: 1-154543710-C-T
gnomAD v3: 1-154571234-C-T
gnomAD v4: 1-154571234-C-T
MyVariant Identifiers: chr1:g.154543710C>T (hg19) chr1:g.154571234C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571234C>T , CM000663.2:g.154571234C>T GRCh38
NC_000001.10:g.154543710C>T , CM000663.1:g.154543710C>T GRCh37
NC_000001.9:g.152810334C>T NCBI36
NG_008027.1:g.8454C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.411C>T MANE Select ENSP00000357461.3:p.Val137=
ENST00000636034.1:c.411C>T ENSP00000489703.1:p.Val137=
ENST00000637900.1:c.417C>T ENSP00000490474.1:p.Val139=
ENST00000368476.3:c.411C>T ENSP00000357461.3:p.Val137=
NM_000748.2:c.411C>T NP_000739.1:p.Val137=
XM_017000180.2:c.-9-91C>T XP_016855669.1:n.-9-91C>T
XR_001736952.2:n.663C>T
NM_000748.3:c.411C>T MANE Select NP_000739.1:p.Val137=
Search 100 bp 5'
Search 100 bp 3'