Canonical Allele Identifier: CA349282231
Gene: CYBRD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.172411182C>A (hg19) chr2:g.171554672C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.171554672C>A , CM000664.2:g.171554672C>A GRCh38
NC_000002.11:g.172411182C>A , CM000664.1:g.172411182C>A GRCh37
NC_000002.10:g.172119428C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000321348.9:c.706C>A MANE Select ENSP00000319141.4:p.His236Asn
ENST00000321348.8:c.706C>A ENSP00000319141.4:p.His236Asn
ENST00000375252.3:c.*23C>A ENSP00000364401.3:n.*23C>A
ENST00000409484.5:c.532C>A ENSP00000386739.1:p.His178Asn
NM_001127383.1:c.*23C>A NP_001120855.1:n.*23C>A
NM_001256909.1:c.532C>A NP_001243838.1:p.His178Asn
NM_024843.3:c.706C>A NP_079119.3:p.His236Asn
NM_024843.4:c.706C>A MANE Select NP_079119.3:p.His236Asn
NM_001127383.2:c.*23C>A NP_001120855.1:n.*23C>A
NM_001256909.2:c.532C>A NP_001243838.1:p.His178Asn
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