Canonical Allele Identifier: CA6095390
Community Standard Title: NM_006268.5(DPF2):c.900C>T (p.Arg300=)
Gene: DPF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65346054C>T , CM000673.2:g.65346054C>T GRCh38
NC_000011.9:g.65113525C>T , CM000673.1:g.65113525C>T GRCh37
NC_000011.8:g.64870101C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006268.5:c.900C>T MANE Select NP_006259.1:p.Arg300=
ENST00000528416.6:c.900C>T MANE Select ENSP00000436901.1:p.Arg300=
NM_001330308.1:c.942C>T NP_001317237.1:p.Arg314=
NM_001330308.2:c.942C>T NP_001317237.1:p.Arg314=
NM_006268.4:c.900C>T NP_006259.1:p.Arg300=
ENST00000252268.8:c.942C>T ENSP00000252268.4:p.Arg314=
ENST00000415073.6:c.466-2796C>T ENSP00000399714.2:n.466-2796C>T
ENST00000524666.5:n.664C>T
ENST00000528416.5:c.900C>T ENSP00000436901.1:p.Arg300=
ENST00000530973.1:n.637C>T
ENST00000530993.6:c.-37C>T ENSP00000515294.1:n.-37C>T
ENST00000531989.1:c.188C>T ENSP00000435887.1:p.Ala63Val
ENST00000532052.1:n.1669C>T
ENST00000703393.1:c.900C>T ENSP00000515285.1:p.Arg300=
ENST00000703394.1:n.1112C>T
ENST00000703424.1:c.1452C>T ENSP00000515295.1:p.Arg484=
ENST00000703425.1:c.1011C>T ENSP00000515296.1:p.Arg337=
ENST00000703426.1:c.*797C>T ENSP00000515297.1:n.*797C>T
ENST00000703427.1:c.840C>T ENSP00000515298.1:p.Arg280=
XM_005274149.1:c.942C>T XP_005274206.1:p.Arg314=
XM_017018101.2:c.882C>T XP_016873590.1:p.Arg294=
XM_017018102.1:c.840C>T XP_016873591.1:p.Arg280=
XM_024448637.1:c.1452C>T XP_024304405.1:p.Arg484=
XM_024448638.1:c.1392C>T XP_024304406.1:p.Arg464=
XR_950008.1:n.868C>T
XR_950008.3:n.868C>T