Canonical Allele Identifier: CA130343

Gene: CYP2U1

Linked Data

• ClinVar Variation Id: 39503
• ClinVar RCV Id: RCV000032699
• dbSNP Id: rs397514515
• MyVariant Identifiers: chr4:g.108866419T>C (hg19) ; chr4:g.107945263T>C (hg38)
• PubMed: PMID:23176821

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.107945263T>C , CM000666.2:g.107945263T>C	GRCh38
NC_000004.11:g.108866419T>C , CM000666.1:g.108866419T>C	GRCh37
NC_000004.10:g.109085868T>C	NCBI36
NG_007961.1:g.18703T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332884.11:c.784T>C MANE Select	ENSP00000333212.6:p.Cys262Arg
ENST00000332884.10:c.784T>C	ENSP00000333212.6:p.Cys262Arg
ENST00000508453.1:c.157T>C	ENSP00000423667.1:p.Cys53Arg
NM_183075.2:c.784T>C	NP_898898.1:p.Cys262Arg
XM_005262717.2:c.838T>C	XP_005262774.1:p.Cys280Arg
XM_005262720.2:c.491-2113T>C	XP_005262777.1:n.491-2113T>C
XR_001741783.1:n.156-34714A>G
XR_001741784.1:n.530+33457A>G
NM_183075.3:c.784T>C MANE Select	NP_898898.1:p.Cys262Arg