Canonical Allele Identifier: CA1965397
Gene: CYBRD1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.171554763G>A
GRCh37 chr2:g.172411273G>A
Revel Score:
ENST00000409484 0.124
ENST00000321348 (MANE Select) 0.124
gnomAD v2:
2:172411273 G / A
gnomAD v3:
2:171554763 G / A
gnomAD v4:
chr2-171554763-G-A
Joint Max Group AF 0.88009475 (AFR)
Genomes Max Group AF 0.8759056 (AFR)
Exomes Max Group AF 0.88008462 (AFR)
ClinVar RCV:
RCV001637259
ClinVar Variation:
1237711
dbSNP:
10455
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.171554763G>A , CM000664.2:g.171554763G>A GRCh38
NC_000002.11:g.172411273G>A , CM000664.1:g.172411273G>A GRCh37
NC_000002.10:g.172119519G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321348.9:c.797G>A MANE Select ENSP00000319141.4:p.Ser266Asn
ENST00000321348.8:c.797G>A ENSP00000319141.4:p.Ser266Asn
ENST00000375252.3:c.*114G>A ENSP00000364401.3:n.*114G>A
ENST00000409484.5:c.623G>A ENSP00000386739.1:p.Ser208Asn
NM_001127383.1:c.*114G>A NP_001120855.1:n.*114G>A
NM_001256909.1:c.623G>A NP_001243838.1:p.Ser208Asn
NM_024843.3:c.797G>A NP_079119.3:p.Ser266Asn
NM_024843.4:c.797G>A MANE Select NP_079119.3:p.Ser266Asn
NM_001127383.2:c.*114G>A NP_001120855.1:n.*114G>A
NM_001256909.2:c.623G>A NP_001243838.1:p.Ser208Asn
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