Canonical Allele Identifier: CA342631017
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2717593
ClinVar RCV Id: RCV003583436
gnomAD v2: 1-154544176-G-A
gnomAD v4: 1-154571700-G-A
MyVariant Identifiers: chr1:g.154544176G>A (hg19) chr1:g.154571700G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571700G>A , CM000663.2:g.154571700G>A GRCh38
NC_000001.10:g.154544176G>A , CM000663.1:g.154544176G>A GRCh37
NC_000001.9:g.152810800G>A NCBI36
NG_008027.1:g.8920G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.877G>A MANE Select ENSP00000357461.3:p.Asp293Asn
ENST00000636034.1:c.877G>A ENSP00000489703.1:p.Asp293Asn
ENST00000637900.1:c.883G>A ENSP00000490474.1:p.Asp295Asn
ENST00000368476.3:c.877G>A ENSP00000357461.3:p.Asp293Asn
NM_000748.2:c.877G>A NP_000739.1:p.Asp293Asn
XM_017000180.2:c.367G>A XP_016855669.1:p.Asp123Asn
XR_001736952.2:n.1129G>A
NM_000748.3:c.877G>A MANE Select NP_000739.1:p.Asp293Asn
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