Canonical Allele Identifier: CA342629891
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 978117
ClinVar RCV Id: RCV001256058
dbSNP Id: rs1696158208
gnomAD v4: 1-154571201-G-A
MyVariant Identifiers: chr1:g.154543677G>A (hg19) chr1:g.154571201G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571201G>A , CM000663.2:g.154571201G>A GRCh38
NC_000001.10:g.154543677G>A , CM000663.1:g.154543677G>A GRCh37
NC_000001.9:g.152810301G>A NCBI36
NG_008027.1:g.8421G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.378G>A MANE Select ENSP00000357461.3:p.Met126Ile
ENST00000636034.1:c.378G>A ENSP00000489703.1:p.Met126Ile
ENST00000637900.1:c.384G>A ENSP00000490474.1:p.Met128Ile
ENST00000368476.3:c.378G>A ENSP00000357461.3:p.Met126Ile
NM_000748.2:c.378G>A NP_000739.1:p.Met126Ile
XM_017000180.2:c.-9-124G>A XP_016855669.1:n.-9-124G>A
XR_001736952.2:n.630G>A
NM_000748.3:c.378G>A MANE Select NP_000739.1:p.Met126Ile
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