Canonical Allele Identifier: CA349282634

Gene: CYBRD1

Linked Data

• MyVariant Identifiers: chr2:g.172411276A>G (hg19) ; chr2:g.171554766A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171554766A>G , CM000664.2:g.171554766A>G	GRCh38
NC_000002.11:g.172411276A>G , CM000664.1:g.172411276A>G	GRCh37
NC_000002.10:g.172119522A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000321348.9:c.800A>G MANE Select	ENSP00000319141.4:p.Glu267Gly
ENST00000321348.8:c.800A>G	ENSP00000319141.4:p.Glu267Gly
ENST00000375252.3:c.*117A>G	ENSP00000364401.3:n.*117A>G
ENST00000409484.5:c.626A>G	ENSP00000386739.1:p.Glu209Gly
NM_001127383.1:c.*117A>G	NP_001120855.1:n.*117A>G
NM_001256909.1:c.626A>G	NP_001243838.1:p.Glu209Gly
NM_024843.3:c.800A>G	NP_079119.3:p.Glu267Gly
NM_024843.4:c.800A>G MANE Select	NP_079119.3:p.Glu267Gly
NM_001127383.2:c.*117A>G	NP_001120855.1:n.*117A>G
NM_001256909.2:c.626A>G	NP_001243838.1:p.Glu209Gly