Canonical Allele Identifier: CA381250615
Community Standard Title: NM_006268.5(DPF2):c.397G>C (p.Ala133Pro)
Gene: DPF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65341494G>C , CM000673.2:g.65341494G>C GRCh38
NC_000011.9:g.65108965G>C , CM000673.1:g.65108965G>C GRCh37
NC_000011.8:g.64865541G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006268.5:c.397G>C MANE Select NP_006259.1:p.Ala133Pro
ENST00000528416.6:c.397G>C MANE Select ENSP00000436901.1:p.Ala133Pro
NM_001330308.1:c.397G>C NP_001317237.1:p.Ala133Pro
NM_001330308.2:c.397G>C NP_001317237.1:p.Ala133Pro
NM_006268.4:c.397G>C NP_006259.1:p.Ala133Pro
ENST00000252268.8:c.397G>C ENSP00000252268.4:p.Ala133Pro
ENST00000415073.6:c.397G>C ENSP00000399714.2:p.Ala133Pro
ENST00000444314.6:n.432G>C
ENST00000524666.5:n.250G>C
ENST00000528416.5:c.397G>C ENSP00000436901.1:p.Ala133Pro
ENST00000530973.1:n.8G>C
ENST00000530993.5:n.261G>C
ENST00000530993.6:c.-582G>C ENSP00000515294.1:n.-582G>C
ENST00000532102.5:c.301+421G>C ENSP00000434885.1:n.301+421G>C
ENST00000532264.5:n.248G>C
ENST00000703393.1:c.397G>C ENSP00000515285.1:p.Ala133Pro
ENST00000703394.1:n.441G>C
ENST00000703424.1:c.397G>C ENSP00000515295.1:p.Ala133Pro
ENST00000703425.1:c.466G>C ENSP00000515296.1:p.Ala156Pro
ENST00000703426.1:c.*252G>C ENSP00000515297.1:n.*252G>C
ENST00000703427.1:c.337G>C ENSP00000515298.1:p.Ala113Pro
XM_005274149.1:c.397G>C XP_005274206.1:p.Ala133Pro
XM_017018101.2:c.337G>C XP_016873590.1:p.Ala113Pro
XM_017018102.1:c.337G>C XP_016873591.1:p.Ala113Pro
XM_024448637.1:c.397G>C XP_024304405.1:p.Ala133Pro
XM_024448638.1:c.337G>C XP_024304406.1:p.Ala113Pro
XR_950008.1:n.444G>C
XR_950008.3:n.444G>C