Canonical Allele Identifier: CA245973
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 197694
ClinVar RCV Id: RCV000178804
dbSNP Id: rs794727707
gnomAD v3: 1-154571370-A-T
gnomAD v4: 1-154571370-A-T
MyVariant Identifiers: chr1:g.154543846A>T (hg19) chr1:g.154571370A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571370A>T , CM000663.2:g.154571370A>T GRCh38
NC_000001.10:g.154543846A>T , CM000663.1:g.154543846A>T GRCh37
NC_000001.9:g.152810470A>T NCBI36
NG_008027.1:g.8590A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.547A>T MANE Select ENSP00000357461.3:p.Ile183Phe
ENST00000636034.1:c.547A>T ENSP00000489703.1:p.Ile183Phe
ENST00000637900.1:c.553A>T ENSP00000490474.1:p.Ile185Phe
ENST00000368476.3:c.547A>T ENSP00000357461.3:p.Ile183Phe
NM_000748.2:c.547A>T NP_000739.1:p.Ile183Phe
XM_017000180.2:c.37A>T XP_016855669.1:p.Ile13Phe
XR_001736952.2:n.799A>T
NM_000748.3:c.547A>T MANE Select NP_000739.1:p.Ile183Phe
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