Canonical Allele Identifier: CA349282624

Gene: CYBRD1

Linked Data

• MyVariant Identifiers: chr2:g.172411274T>G (hg19) ; chr2:g.171554764T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171554764T>G , CM000664.2:g.171554764T>G	GRCh38
NC_000002.11:g.172411274T>G , CM000664.1:g.172411274T>G	GRCh37
NC_000002.10:g.172119520T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000321348.9:c.798T>G MANE Select	ENSP00000319141.4:p.Ser266Arg
ENST00000321348.8:c.798T>G	ENSP00000319141.4:p.Ser266Arg
ENST00000375252.3:c.*115T>G	ENSP00000364401.3:n.*115T>G
ENST00000409484.5:c.624T>G	ENSP00000386739.1:p.Ser208Arg
NM_001127383.1:c.*115T>G	NP_001120855.1:n.*115T>G
NM_001256909.1:c.624T>G	NP_001243838.1:p.Ser208Arg
NM_024843.3:c.798T>G	NP_079119.3:p.Ser266Arg
NM_024843.4:c.798T>G MANE Select	NP_079119.3:p.Ser266Arg
NM_001127383.2:c.*115T>G	NP_001120855.1:n.*115T>G
NM_001256909.2:c.624T>G	NP_001243838.1:p.Ser208Arg