Canonical Allele Identifier: CA381232546
Community Standard Title: NM_006268.5(DPF2):c.1067G>C (p.Cys356Ser)
Gene: DPF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65348899G>C , CM000673.2:g.65348899G>C GRCh38
NC_000011.9:g.65116370G>C , CM000673.1:g.65116370G>C GRCh37
NC_000011.8:g.64872946G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006268.5:c.1067G>C MANE Select NP_006259.1:p.Cys356Ser
ENST00000528416.6:c.1067G>C MANE Select ENSP00000436901.1:p.Cys356Ser
NM_001330308.1:c.1109G>C NP_001317237.1:p.Cys370Ser
NM_001330308.2:c.1109G>C NP_001317237.1:p.Cys370Ser
NM_006268.4:c.1067G>C NP_006259.1:p.Cys356Ser
ENST00000252268.8:c.1109G>C ENSP00000252268.4:p.Cys370Ser
ENST00000415073.6:c.515G>C ENSP00000399714.2:p.Cys172Ser
ENST00000524666.5:n.3509G>C
ENST00000528416.5:c.1067G>C ENSP00000436901.1:p.Cys356Ser
ENST00000530993.6:c.131G>C ENSP00000515294.1:p.Cys44Ser
ENST00000531989.1:c.242G>C ENSP00000435887.1:p.Cys81Ser
ENST00000532052.1:n.1836G>C
ENST00000703393.1:c.*51G>C ENSP00000515285.1:n.*51G>C
ENST00000703394.1:n.1279G>C
ENST00000703424.1:c.1619G>C ENSP00000515295.1:p.Cys540Ser
ENST00000703425.1:c.1178G>C ENSP00000515296.1:p.Cys393Ser
ENST00000703426.1:c.*964G>C ENSP00000515297.1:n.*964G>C
ENST00000703427.1:c.1007G>C ENSP00000515298.1:p.Cys336Ser
XM_005274149.1:c.1109G>C XP_005274206.1:p.Cys370Ser
XM_017018101.2:c.1049G>C XP_016873590.1:p.Cys350Ser
XM_017018102.1:c.1007G>C XP_016873591.1:p.Cys336Ser
XM_024448637.1:c.1619G>C XP_024304405.1:p.Cys540Ser
XM_024448638.1:c.1559G>C XP_024304406.1:p.Cys520Ser
XR_950008.1:n.1035G>C
XR_950008.3:n.1035G>C