Canonical Allele Identifier: CA1130791
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1136012
ClinVar RCV Id: RCV001471516
dbSNP Id: rs750455908
ExAC: 1:154544190 C / T
gnomAD v2: 1-154544190-C-T
gnomAD v3: 1-154571714-C-T
gnomAD v4: 1-154571714-C-T
MyVariant Identifiers: chr1:g.154544190C>T (hg19) chr1:g.154571714C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571714C>T , CM000663.2:g.154571714C>T GRCh38
NC_000001.10:g.154544190C>T , CM000663.1:g.154544190C>T GRCh37
NC_000001.9:g.152810814C>T NCBI36
NG_008027.1:g.8934C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.891C>T MANE Select ENSP00000357461.3:p.Val297=
ENST00000636034.1:c.891C>T ENSP00000489703.1:p.Val297=
ENST00000637900.1:c.897C>T ENSP00000490474.1:p.Val299=
ENST00000368476.3:c.891C>T ENSP00000357461.3:p.Val297=
NM_000748.2:c.891C>T NP_000739.1:p.Val297=
XM_017000180.2:c.381C>T XP_016855669.1:p.Val127=
XR_001736952.2:n.1143C>T
NM_000748.3:c.891C>T MANE Select NP_000739.1:p.Val297=
Search 100 bp 5'
Search 100 bp 3'