Canonical Allele Identifier: CA381249873
Community Standard Title: NM_006268.5(DPF2):c.198G>C (p.Leu66Phe)
Gene: DPF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65340970G>C , CM000673.2:g.65340970G>C GRCh38
NC_000011.9:g.65108441G>C , CM000673.1:g.65108441G>C GRCh37
NC_000011.8:g.64865017G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006268.5:c.198G>C MANE Select NP_006259.1:p.Leu66Phe
ENST00000528416.6:c.198G>C MANE Select ENSP00000436901.1:p.Leu66Phe
NM_001330308.1:c.198G>C NP_001317237.1:p.Leu66Phe
NM_001330308.2:c.198G>C NP_001317237.1:p.Leu66Phe
NM_006268.4:c.198G>C NP_006259.1:p.Leu66Phe
ENST00000252268.8:c.198G>C ENSP00000252268.4:p.Leu66Phe
ENST00000415073.6:c.198G>C ENSP00000399714.2:p.Leu66Phe
ENST00000444314.6:n.233G>C
ENST00000524666.5:n.51G>C
ENST00000528416.5:c.198G>C ENSP00000436901.1:p.Leu66Phe
ENST00000530993.5:n.62G>C
ENST00000530993.6:c.-781G>C ENSP00000515294.1:n.-781G>C
ENST00000532102.5:c.198G>C ENSP00000434885.1:p.Leu66Phe
ENST00000532264.5:n.49G>C
ENST00000703393.1:c.198G>C ENSP00000515285.1:p.Leu66Phe
ENST00000703394.1:n.242G>C
ENST00000703424.1:c.198G>C ENSP00000515295.1:p.Leu66Phe
ENST00000703425.1:c.267G>C ENSP00000515296.1:p.Leu89Phe
ENST00000703426.1:c.*53G>C ENSP00000515297.1:n.*53G>C
ENST00000703427.1:c.138G>C ENSP00000515298.1:p.Leu46Phe
XM_005274149.1:c.198G>C XP_005274206.1:p.Leu66Phe
XM_017018101.2:c.138G>C XP_016873590.1:p.Leu46Phe
XM_017018102.1:c.138G>C XP_016873591.1:p.Leu46Phe
XM_024448637.1:c.198G>C XP_024304405.1:p.Leu66Phe
XM_024448638.1:c.138G>C XP_024304406.1:p.Leu46Phe
XR_950008.1:n.245G>C
XR_950008.3:n.245G>C