Canonical Allele Identifier: CA349282642

Gene: CYBRD1

Linked Data

• MyVariant Identifiers: chr2:g.172411278G>T (hg19) ; chr2:g.171554768G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171554768G>T , CM000664.2:g.171554768G>T	GRCh38
NC_000002.11:g.172411278G>T , CM000664.1:g.172411278G>T	GRCh37
NC_000002.10:g.172119524G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321348.9:c.802G>T MANE Select	ENSP00000319141.4:p.Val268Leu
ENST00000321348.8:c.802G>T	ENSP00000319141.4:p.Val268Leu
ENST00000375252.3:c.*119G>T	ENSP00000364401.3:n.*119G>T
ENST00000409484.5:c.628G>T	ENSP00000386739.1:p.Val210Leu
NM_001127383.1:c.*119G>T	NP_001120855.1:n.*119G>T
NM_001256909.1:c.628G>T	NP_001243838.1:p.Val210Leu
NM_024843.3:c.802G>T	NP_079119.3:p.Val268Leu
NM_024843.4:c.802G>T MANE Select	NP_079119.3:p.Val268Leu
NM_001127383.2:c.*119G>T	NP_001120855.1:n.*119G>T
NM_001256909.2:c.628G>T	NP_001243838.1:p.Val210Leu