Canonical Allele Identifier: CA381254260
Community Standard Title: NM_006268.5(DPF2):c.827G>T (p.Cys276Phe)
Gene: DPF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65345981G>T , CM000673.2:g.65345981G>T GRCh38
NC_000011.9:g.65113452G>T , CM000673.1:g.65113452G>T GRCh37
NC_000011.8:g.64870028G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006268.5:c.827G>T MANE Select NP_006259.1:p.Cys276Phe
ENST00000528416.6:c.827G>T MANE Select ENSP00000436901.1:p.Cys276Phe
NM_001330308.1:c.869G>T NP_001317237.1:p.Cys290Phe
NM_001330308.2:c.869G>T NP_001317237.1:p.Cys290Phe
NM_006268.4:c.827G>T NP_006259.1:p.Cys276Phe
ENST00000252268.8:c.869G>T ENSP00000252268.4:p.Cys290Phe
ENST00000415073.6:c.466-2869G>T ENSP00000399714.2:n.466-2869G>T
ENST00000524666.5:n.591G>T
ENST00000528416.5:c.827G>T ENSP00000436901.1:p.Cys276Phe
ENST00000530973.1:n.564G>T
ENST00000530993.6:c.-110G>T ENSP00000515294.1:n.-110G>T
ENST00000531989.1:c.115G>T ENSP00000435887.1:p.Ala39Ser
ENST00000532052.1:n.1596G>T
ENST00000532264.5:n.678G>T
ENST00000703393.1:c.827G>T ENSP00000515285.1:p.Cys276Phe
ENST00000703394.1:n.1039G>T
ENST00000703424.1:c.1379G>T ENSP00000515295.1:p.Cys460Phe
ENST00000703425.1:c.938G>T ENSP00000515296.1:p.Cys313Phe
ENST00000703426.1:c.*724G>T ENSP00000515297.1:n.*724G>T
ENST00000703427.1:c.767G>T ENSP00000515298.1:p.Cys256Phe
XM_005274149.1:c.869G>T XP_005274206.1:p.Cys290Phe
XM_017018101.2:c.809G>T XP_016873590.1:p.Cys270Phe
XM_017018102.1:c.767G>T XP_016873591.1:p.Cys256Phe
XM_024448637.1:c.1379G>T XP_024304405.1:p.Cys460Phe
XM_024448638.1:c.1319G>T XP_024304406.1:p.Cys440Phe
XR_950008.1:n.795G>T
XR_950008.3:n.795G>T