Canonical Allele Identifier: CA429777051
Gene: CYBRD1 HGNC NCBI

Linked Data

gnomAD v4: 2-171554671-T-G
MyVariant Identifiers: chr2:g.172411181T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.171554671T>G , CM000664.2:g.171554671T>G GRCh38
NC_000002.11:g.172411181T>G , CM000664.1:g.172411181T>G GRCh37
NC_000002.10:g.172119427T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321348.9:c.705T>G MANE Select ENSP00000319141.4:p.Leu235=
ENST00000321348.8:c.705T>G ENSP00000319141.4:p.Leu235=
ENST00000375252.3:c.*22T>G ENSP00000364401.3:n.*22T>G
ENST00000409484.5:c.531T>G ENSP00000386739.1:p.Leu177=
NM_001127383.1:c.*22T>G NP_001120855.1:n.*22T>G
NM_001256909.1:c.531T>G NP_001243838.1:p.Leu177=
NM_024843.3:c.705T>G NP_079119.3:p.Leu235=
NM_024843.4:c.705T>G MANE Select NP_079119.3:p.Leu235=
NM_001127383.2:c.*22T>G NP_001120855.1:n.*22T>G
NM_001256909.2:c.531T>G NP_001243838.1:p.Leu177=
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