Canonical Allele Identifier: CA381254306
Community Standard Title: NM_006268.5(DPF2):c.844A>C (p.Ile282Leu)
Gene: DPF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65345998A>C , CM000673.2:g.65345998A>C GRCh38
NC_000011.9:g.65113469A>C , CM000673.1:g.65113469A>C GRCh37
NC_000011.8:g.64870045A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006268.5:c.844A>C MANE Select NP_006259.1:p.Ile282Leu
ENST00000528416.6:c.844A>C MANE Select ENSP00000436901.1:p.Ile282Leu
NM_001330308.1:c.886A>C NP_001317237.1:p.Ile296Leu
NM_001330308.2:c.886A>C NP_001317237.1:p.Ile296Leu
NM_006268.4:c.844A>C NP_006259.1:p.Ile282Leu
ENST00000252268.8:c.886A>C ENSP00000252268.4:p.Ile296Leu
ENST00000415073.6:c.466-2852A>C ENSP00000399714.2:n.466-2852A>C
ENST00000524666.5:n.608A>C
ENST00000528416.5:c.844A>C ENSP00000436901.1:p.Ile282Leu
ENST00000530973.1:n.581A>C
ENST00000530993.6:c.-93A>C ENSP00000515294.1:n.-93A>C
ENST00000531989.1:c.132A>C ENSP00000435887.1:p.Arg44Ser
ENST00000532052.1:n.1613A>C
ENST00000532264.5:n.695A>C
ENST00000703393.1:c.844A>C ENSP00000515285.1:p.Ile282Leu
ENST00000703394.1:n.1056A>C
ENST00000703424.1:c.1396A>C ENSP00000515295.1:p.Ile466Leu
ENST00000703425.1:c.955A>C ENSP00000515296.1:p.Ile319Leu
ENST00000703426.1:c.*741A>C ENSP00000515297.1:n.*741A>C
ENST00000703427.1:c.784A>C ENSP00000515298.1:p.Ile262Leu
XM_005274149.1:c.886A>C XP_005274206.1:p.Ile296Leu
XM_017018101.2:c.826A>C XP_016873590.1:p.Ile276Leu
XM_017018102.1:c.784A>C XP_016873591.1:p.Ile262Leu
XM_024448637.1:c.1396A>C XP_024304405.1:p.Ile466Leu
XM_024448638.1:c.1336A>C XP_024304406.1:p.Ile446Leu
XR_950008.1:n.812A>C
XR_950008.3:n.812A>C