Canonical Allele Identifier: CA6095485
Community Standard Title: NM_006268.5(DPF2):c.1169C>A (p.Ser390Tyr)
Gene: DPF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65351752C>A , CM000673.2:g.65351752C>A GRCh38
NC_000011.9:g.65119223C>A , CM000673.1:g.65119223C>A GRCh37
NC_000011.8:g.64875799C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006268.5:c.1169C>A MANE Select NP_006259.1:p.Ser390Tyr
ENST00000528416.6:c.1169C>A MANE Select ENSP00000436901.1:p.Ser390Tyr
NM_001330308.1:c.1211C>A NP_001317237.1:p.Ser404Tyr
NM_001330308.2:c.1211C>A NP_001317237.1:p.Ser404Tyr
NM_006268.4:c.1169C>A NP_006259.1:p.Ser390Tyr
ENST00000252268.8:c.1211C>A ENSP00000252268.4:p.Ser404Tyr
ENST00000415073.6:c.617C>A ENSP00000399714.2:p.Ser206Tyr
ENST00000524666.5:n.3611C>A
ENST00000528416.5:c.1169C>A ENSP00000436901.1:p.Ser390Tyr
ENST00000530993.6:c.233C>A ENSP00000515294.1:p.Ser78Tyr
ENST00000531989.1:c.344C>A ENSP00000435887.1:p.Ser115Tyr
ENST00000532052.1:n.1938C>A
ENST00000703393.1:c.*153C>A ENSP00000515285.1:n.*153C>A
ENST00000703394.1:n.1381C>A
ENST00000703424.1:c.1721C>A ENSP00000515295.1:p.Ser574Tyr
ENST00000703425.1:c.1280C>A ENSP00000515296.1:p.Ser427Tyr
ENST00000703426.1:c.*1066C>A ENSP00000515297.1:n.*1066C>A
ENST00000703427.1:c.1109C>A ENSP00000515298.1:p.Ser370Tyr
XM_005274149.1:c.1211C>A XP_005274206.1:p.Ser404Tyr
XM_017018101.2:c.1151C>A XP_016873590.1:p.Ser384Tyr
XM_017018102.1:c.1109C>A XP_016873591.1:p.Ser370Tyr
XM_024448637.1:c.1721C>A XP_024304405.1:p.Ser574Tyr
XM_024448638.1:c.1661C>A XP_024304406.1:p.Ser554Tyr
XR_950008.1:n.1137C>A
XR_950008.3:n.1137C>A