Canonical Allele Identifier: CA3162632
Gene: CYP4V2 HGNC NCBI

Linked Data

dbSNP Id: rs774674046

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186198963_186198966del , CM000666.2:g.186198963_186198966del GRCh38
NC_000004.11:g.187120117_187120120del , CM000666.1:g.187120117_187120120del GRCh37
NC_000004.10:g.187357111_187357114del NCBI36
NG_007965.1:g.12444_12447del

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.681_684del MANE Select ENSP00000368079.4:p.Ser227ArgfsTer2
ENST00000378802.4:c.681_684del ENSP00000368079.4:p.Ser227ArgfsTer2
ENST00000507209.5:n.1522_1525del
NM_207352.3:c.681_684del NP_997235.3:p.Ser227ArgfsTer2
XM_005262935.2:c.681_684del XP_005262992.1:p.Ser227ArgfsTer2
XM_006714184.2:c.285_288del XP_006714247.1:p.Ser95ArgfsTer2
XM_005262935.4:c.681_684del XP_005262992.1:p.Ser227ArgfsTer2
XM_017008037.1:c.285_288del XP_016863526.1:p.Ser95ArgfsTer2
NM_207352.4:c.681_684del MANE Select NP_997235.3:p.Ser227ArgfsTer2