Canonical Allele Identifier: CA381232445
Community Standard Title: NM_006268.5(DPF2):c.1027C>G (p.Leu343Val)
Gene: DPF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65348859C>G , CM000673.2:g.65348859C>G GRCh38
NC_000011.9:g.65116330C>G , CM000673.1:g.65116330C>G GRCh37
NC_000011.8:g.64872906C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006268.5:c.1027C>G MANE Select NP_006259.1:p.Leu343Val
ENST00000528416.6:c.1027C>G MANE Select ENSP00000436901.1:p.Leu343Val
NM_001330308.1:c.1069C>G NP_001317237.1:p.Leu357Val
NM_001330308.2:c.1069C>G NP_001317237.1:p.Leu357Val
NM_006268.4:c.1027C>G NP_006259.1:p.Leu343Val
ENST00000252268.8:c.1069C>G ENSP00000252268.4:p.Leu357Val
ENST00000415073.6:c.475C>G ENSP00000399714.2:p.Leu159Val
ENST00000524666.5:n.3469C>G
ENST00000528416.5:c.1027C>G ENSP00000436901.1:p.Leu343Val
ENST00000530993.6:c.91C>G ENSP00000515294.1:p.Leu31Val
ENST00000531989.1:c.202C>G ENSP00000435887.1:p.Leu68Val
ENST00000532052.1:n.1796C>G
ENST00000703393.1:c.*11C>G ENSP00000515285.1:n.*11C>G
ENST00000703394.1:n.1239C>G
ENST00000703424.1:c.1579C>G ENSP00000515295.1:p.Leu527Val
ENST00000703425.1:c.1138C>G ENSP00000515296.1:p.Leu380Val
ENST00000703426.1:c.*924C>G ENSP00000515297.1:n.*924C>G
ENST00000703427.1:c.967C>G ENSP00000515298.1:p.Leu323Val
XM_005274149.1:c.1069C>G XP_005274206.1:p.Leu357Val
XM_017018101.2:c.1009C>G XP_016873590.1:p.Leu337Val
XM_017018102.1:c.967C>G XP_016873591.1:p.Leu323Val
XM_024448637.1:c.1579C>G XP_024304405.1:p.Leu527Val
XM_024448638.1:c.1519C>G XP_024304406.1:p.Leu507Val
XR_950008.1:n.995C>G
XR_950008.3:n.995C>G