Canonical Allele Identifier: CA381232543
Community Standard Title: NM_006268.5(DPF2):c.1066T>A (p.Cys356Ser)
Gene: DPF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65348898T>A , CM000673.2:g.65348898T>A GRCh38
NC_000011.9:g.65116369T>A , CM000673.1:g.65116369T>A GRCh37
NC_000011.8:g.64872945T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006268.5:c.1066T>A MANE Select NP_006259.1:p.Cys356Ser
ENST00000528416.6:c.1066T>A MANE Select ENSP00000436901.1:p.Cys356Ser
NM_001330308.1:c.1108T>A NP_001317237.1:p.Cys370Ser
NM_001330308.2:c.1108T>A NP_001317237.1:p.Cys370Ser
NM_006268.4:c.1066T>A NP_006259.1:p.Cys356Ser
ENST00000252268.8:c.1108T>A ENSP00000252268.4:p.Cys370Ser
ENST00000415073.6:c.514T>A ENSP00000399714.2:p.Cys172Ser
ENST00000524666.5:n.3508T>A
ENST00000528416.5:c.1066T>A ENSP00000436901.1:p.Cys356Ser
ENST00000530993.6:c.130T>A ENSP00000515294.1:p.Cys44Ser
ENST00000531989.1:c.241T>A ENSP00000435887.1:p.Cys81Ser
ENST00000532052.1:n.1835T>A
ENST00000703393.1:c.*50T>A ENSP00000515285.1:n.*50T>A
ENST00000703394.1:n.1278T>A
ENST00000703424.1:c.1618T>A ENSP00000515295.1:p.Cys540Ser
ENST00000703425.1:c.1177T>A ENSP00000515296.1:p.Cys393Ser
ENST00000703426.1:c.*963T>A ENSP00000515297.1:n.*963T>A
ENST00000703427.1:c.1006T>A ENSP00000515298.1:p.Cys336Ser
XM_005274149.1:c.1108T>A XP_005274206.1:p.Cys370Ser
XM_017018101.2:c.1048T>A XP_016873590.1:p.Cys350Ser
XM_017018102.1:c.1006T>A XP_016873591.1:p.Cys336Ser
XM_024448637.1:c.1618T>A XP_024304405.1:p.Cys540Ser
XM_024448638.1:c.1558T>A XP_024304406.1:p.Cys520Ser
XR_950008.1:n.1034T>A
XR_950008.3:n.1034T>A