Canonical Allele Identifier: CA2672897717
Gene: CYP4V2 HGNC NCBI

Linked Data

gnomAD v4: 4-186197582-G-GT
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186197583dup , CM000666.2:g.186197583dup GRCh38
NC_000004.11:g.187118737dup , CM000666.1:g.187118737dup GRCh37
NC_000004.10:g.187355731dup NCBI36
NG_007965.1:g.11064dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.655dup MANE Select ENSP00000368079.4:p.Tyr219LeufsTer7
ENST00000378802.4:c.655dup ENSP00000368079.4:p.Tyr219LeufsTer7
ENST00000507209.5:n.1496dup
NM_207352.3:c.655dup NP_997235.3:p.Tyr219LeufsTer7
XM_005262935.2:c.655dup XP_005262992.1:p.Tyr219LeufsTer7
XM_006714184.2:c.259dup XP_006714247.1:p.Tyr87LeufsTer7
XM_005262935.4:c.655dup XP_005262992.1:p.Tyr219LeufsTer7
XM_017008037.1:c.259dup XP_016863526.1:p.Tyr87LeufsTer7
NM_207352.4:c.655dup MANE Select NP_997235.3:p.Tyr219LeufsTer7
Search 100 bp 5'
Search 100 bp 3'