Canonical Allele Identifier: CA381232490
Community Standard Title: NM_006268.5(DPF2):c.1045G>C (p.Asp349His)
Gene: DPF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65348877G>C , CM000673.2:g.65348877G>C GRCh38
NC_000011.9:g.65116348G>C , CM000673.1:g.65116348G>C GRCh37
NC_000011.8:g.64872924G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006268.5:c.1045G>C MANE Select NP_006259.1:p.Asp349His
ENST00000528416.6:c.1045G>C MANE Select ENSP00000436901.1:p.Asp349His
NM_001330308.1:c.1087G>C NP_001317237.1:p.Asp363His
NM_001330308.2:c.1087G>C NP_001317237.1:p.Asp363His
NM_006268.4:c.1045G>C NP_006259.1:p.Asp349His
ENST00000252268.8:c.1087G>C ENSP00000252268.4:p.Asp363His
ENST00000415073.6:c.493G>C ENSP00000399714.2:p.Asp165His
ENST00000524666.5:n.3487G>C
ENST00000528416.5:c.1045G>C ENSP00000436901.1:p.Asp349His
ENST00000530993.6:c.109G>C ENSP00000515294.1:p.Asp37His
ENST00000531989.1:c.220G>C ENSP00000435887.1:p.Asp74His
ENST00000532052.1:n.1814G>C
ENST00000703393.1:c.*29G>C ENSP00000515285.1:n.*29G>C
ENST00000703394.1:n.1257G>C
ENST00000703424.1:c.1597G>C ENSP00000515295.1:p.Asp533His
ENST00000703425.1:c.1156G>C ENSP00000515296.1:p.Asp386His
ENST00000703426.1:c.*942G>C ENSP00000515297.1:n.*942G>C
ENST00000703427.1:c.985G>C ENSP00000515298.1:p.Asp329His
XM_005274149.1:c.1087G>C XP_005274206.1:p.Asp363His
XM_017018101.2:c.1027G>C XP_016873590.1:p.Asp343His
XM_017018102.1:c.985G>C XP_016873591.1:p.Asp329His
XM_024448637.1:c.1597G>C XP_024304405.1:p.Asp533His
XM_024448638.1:c.1537G>C XP_024304406.1:p.Asp513His
XR_950008.1:n.1013G>C
XR_950008.3:n.1013G>C