Canonical Allele Identifier: CA1965384

Gene: CYBRD1

Linked Data

• dbSNP Id: rs773902943
• ExAC: 2:172411182 C / T
• gnomAD v2: 2-172411182-C-T
• gnomAD v4: 2-171554672-C-T
• MyVariant Identifiers: chr2:g.172411182C>T (hg19) ; chr2:g.171554672C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321348.9:c.706C>T MANE Select	ENSP00000319141.4:p.His236Tyr
ENST00000321348.8:c.706C>T	ENSP00000319141.4:p.His236Tyr
ENST00000375252.3:c.*23C>T	ENSP00000364401.3:n.*23C>T
ENST00000409484.5:c.532C>T	ENSP00000386739.1:p.His178Tyr
NM_001127383.1:c.*23C>T	NP_001120855.1:n.*23C>T
NM_001256909.1:c.532C>T	NP_001243838.1:p.His178Tyr
NM_024843.3:c.706C>T	NP_079119.3:p.His236Tyr
NM_024843.4:c.706C>T MANE Select	NP_079119.3:p.His236Tyr
NM_001127383.2:c.*23C>T	NP_001120855.1:n.*23C>T
NM_001256909.2:c.532C>T	NP_001243838.1:p.His178Tyr