Canonical Allele Identifier: CA342630452
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 947189
ClinVar RCV Id: RCV001218208
dbSNP Id: rs1260932072
gnomAD v2: 1-154543903-G-A
gnomAD v3: 1-154571427-G-A
gnomAD v4: 1-154571427-G-A
MyVariant Identifiers: chr1:g.154543903G>A (hg19) chr1:g.154571427G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571427G>A , CM000663.2:g.154571427G>A GRCh38
NC_000001.10:g.154543903G>A , CM000663.1:g.154543903G>A GRCh37
NC_000001.9:g.152810527G>A NCBI36
NG_008027.1:g.8647G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.604G>A MANE Select ENSP00000357461.3:p.Glu202Lys
ENST00000636034.1:c.604G>A ENSP00000489703.1:p.Glu202Lys
ENST00000637900.1:c.610G>A ENSP00000490474.1:p.Glu204Lys
ENST00000368476.3:c.604G>A ENSP00000357461.3:p.Glu202Lys
NM_000748.2:c.604G>A NP_000739.1:p.Glu202Lys
XM_017000180.2:c.94G>A XP_016855669.1:p.Glu32Lys
XR_001736952.2:n.856G>A
NM_000748.3:c.604G>A MANE Select NP_000739.1:p.Glu202Lys
Search 100 bp 5'
Search 100 bp 3'