Canonical Allele Identifier: CA421231282
Gene: CHRNB2 HGNC NCBI

Linked Data

dbSNP Id: rs1403676023
gnomAD v2: 1-154544187-C-T
gnomAD v4: 1-154571711-C-T
MyVariant Identifiers: chr1:g.154544187C>T (hg19) chr1:g.154571711C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571711C>T , CM000663.2:g.154571711C>T GRCh38
NC_000001.10:g.154544187C>T , CM000663.1:g.154544187C>T GRCh37
NC_000001.9:g.152810811C>T NCBI36
NG_008027.1:g.8931C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.888C>T MANE Select ENSP00000357461.3:p.Leu296=
ENST00000636034.1:c.888C>T ENSP00000489703.1:p.Leu296=
ENST00000637900.1:c.894C>T ENSP00000490474.1:p.Leu298=
ENST00000368476.3:c.888C>T ENSP00000357461.3:p.Leu296=
NM_000748.2:c.888C>T NP_000739.1:p.Leu296=
XM_017000180.2:c.378C>T XP_016855669.1:p.Leu126=
XR_001736952.2:n.1140C>T
NM_000748.3:c.888C>T MANE Select NP_000739.1:p.Leu296=
Search 100 bp 5'
Search 100 bp 3'