Canonical Allele Identifier: CA381232500
Community Standard Title: NM_006268.5(DPF2):c.1049G>A (p.Arg350His)
Gene: DPF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65348881G>A , CM000673.2:g.65348881G>A GRCh38
NC_000011.9:g.65116352G>A , CM000673.1:g.65116352G>A GRCh37
NC_000011.8:g.64872928G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006268.5:c.1049G>A MANE Select NP_006259.1:p.Arg350His
ENST00000528416.6:c.1049G>A MANE Select ENSP00000436901.1:p.Arg350His
NM_001330308.1:c.1091G>A NP_001317237.1:p.Arg364His
NM_001330308.2:c.1091G>A NP_001317237.1:p.Arg364His
NM_006268.4:c.1049G>A NP_006259.1:p.Arg350His
ENST00000252268.8:c.1091G>A ENSP00000252268.4:p.Arg364His
ENST00000415073.6:c.497G>A ENSP00000399714.2:p.Arg166His
ENST00000524666.5:n.3491G>A
ENST00000528416.5:c.1049G>A ENSP00000436901.1:p.Arg350His
ENST00000530993.6:c.113G>A ENSP00000515294.1:p.Arg38His
ENST00000531989.1:c.224G>A ENSP00000435887.1:p.Arg75His
ENST00000532052.1:n.1818G>A
ENST00000703393.1:c.*33G>A ENSP00000515285.1:n.*33G>A
ENST00000703394.1:n.1261G>A
ENST00000703424.1:c.1601G>A ENSP00000515295.1:p.Arg534His
ENST00000703425.1:c.1160G>A ENSP00000515296.1:p.Arg387His
ENST00000703426.1:c.*946G>A ENSP00000515297.1:n.*946G>A
ENST00000703427.1:c.989G>A ENSP00000515298.1:p.Arg330His
XM_005274149.1:c.1091G>A XP_005274206.1:p.Arg364His
XM_017018101.2:c.1031G>A XP_016873590.1:p.Arg344His
XM_017018102.1:c.989G>A XP_016873591.1:p.Arg330His
XM_024448637.1:c.1601G>A XP_024304405.1:p.Arg534His
XM_024448638.1:c.1541G>A XP_024304406.1:p.Arg514His
XR_950008.1:n.1017G>A
XR_950008.3:n.1017G>A