Canonical Allele Identifier: CA349282656
Gene: CYBRD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.172411284G>C (hg19) chr2:g.171554774G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.171554774G>C , CM000664.2:g.171554774G>C GRCh38
NC_000002.11:g.172411284G>C , CM000664.1:g.172411284G>C GRCh37
NC_000002.10:g.172119530G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321348.9:c.808G>C MANE Select ENSP00000319141.4:p.Ala270Pro
ENST00000321348.8:c.808G>C ENSP00000319141.4:p.Ala270Pro
ENST00000375252.3:c.*125G>C ENSP00000364401.3:n.*125G>C
ENST00000409484.5:c.634G>C ENSP00000386739.1:p.Ala212Pro
NM_001127383.1:c.*125G>C NP_001120855.1:n.*125G>C
NM_001256909.1:c.634G>C NP_001243838.1:p.Ala212Pro
NM_024843.3:c.808G>C NP_079119.3:p.Ala270Pro
NM_024843.4:c.808G>C MANE Select NP_079119.3:p.Ala270Pro
NM_001127383.2:c.*125G>C NP_001120855.1:n.*125G>C
NM_001256909.2:c.634G>C NP_001243838.1:p.Ala212Pro
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