Canonical Allele Identifier: CA1007941553
Gene: CHRNB2 HGNC NCBI

Linked Data

dbSNP Id: rs1696161734
gnomAD v3: 1-154571384-G-GA
gnomAD v4: 1-154571384-G-GA
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571386dup , CM000663.2:g.154571386dup GRCh38
NC_000001.10:g.154543862dup , CM000663.1:g.154543862dup GRCh37
NC_000001.9:g.152810486dup NCBI36
NG_008027.1:g.8606dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.563dup MANE Select ENSP00000357461.3:p.Ser189GlufsTer2
ENST00000636034.1:c.563dup ENSP00000489703.1:p.Ser189GlufsTer2
ENST00000637900.1:c.569dup ENSP00000490474.1:p.Ser191GlufsTer2
ENST00000368476.3:c.563dup ENSP00000357461.3:p.Ser189GlufsTer2
NM_000748.2:c.563dup NP_000739.1:p.Ser189GlufsTer2
XM_017000180.2:c.53dup XP_016855669.1:p.Ser19GlufsTer2
XR_001736952.2:n.815dup
NM_000748.3:c.563dup MANE Select NP_000739.1:p.Ser189GlufsTer2
Search 100 bp 5'
Search 100 bp 3'