Canonical Allele Identifier: CA342631180
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1507032
ClinVar RCV Id: RCV002038254
dbSNP Id: rs2101521543
MyVariant Identifiers: chr1:g.154544252T>C (hg19) chr1:g.154571776T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571776T>C , CM000663.2:g.154571776T>C GRCh38
NC_000001.10:g.154544252T>C , CM000663.1:g.154544252T>C GRCh37
NC_000001.9:g.152810876T>C NCBI36
NG_008027.1:g.8996T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.953T>C MANE Select ENSP00000357461.3:p.Val318Ala
ENST00000636034.1:c.953T>C ENSP00000489703.1:p.Val318Ala
ENST00000637900.1:c.959T>C ENSP00000490474.1:p.Val320Ala
ENST00000368476.3:c.953T>C ENSP00000357461.3:p.Val318Ala
NM_000748.2:c.953T>C NP_000739.1:p.Val318Ala
XM_017000180.2:c.443T>C XP_016855669.1:p.Val148Ala
XR_001736952.2:n.1205T>C
NM_000748.3:c.953T>C MANE Select NP_000739.1:p.Val318Ala
Search 100 bp 5'
Search 100 bp 3'