Canonical Allele Identifier: CA381254480
Community Standard Title: NM_006268.5(DPF2):c.904+1G>C
Gene: DPF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65346059G>C , CM000673.2:g.65346059G>C GRCh38
NC_000011.9:g.65113530G>C , CM000673.1:g.65113530G>C GRCh37
NC_000011.8:g.64870106G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006268.5:c.904+1G>C MANE Select NP_006259.1:n.904+1G>C
ENST00000528416.6:c.904+1G>C MANE Select ENSP00000436901.1:n.904+1G>C
NM_001330308.1:c.946+1G>C NP_001317237.1:n.946+1G>C
NM_001330308.2:c.946+1G>C NP_001317237.1:n.946+1G>C
NM_006268.4:c.904+1G>C NP_006259.1:n.904+1G>C
ENST00000252268.8:c.946+1G>C ENSP00000252268.4:n.946+1G>C
ENST00000415073.6:c.466-2791G>C ENSP00000399714.2:n.466-2791G>C
ENST00000524666.5:n.669G>C
ENST00000528416.5:c.904+1G>C ENSP00000436901.1:n.904+1G>C
ENST00000530973.1:n.642G>C
ENST00000530993.6:c.-33+1G>C ENSP00000515294.1:n.-33+1G>C
ENST00000531989.1:c.192+1G>C ENSP00000435887.1:n.192+1G>C
ENST00000532052.1:n.1673+1G>C
ENST00000703393.1:c.904+1G>C ENSP00000515285.1:n.904+1G>C
ENST00000703394.1:n.1116+1G>C
ENST00000703424.1:c.1456+1G>C ENSP00000515295.1:n.1456+1G>C
ENST00000703425.1:c.1015+1G>C ENSP00000515296.1:n.1015+1G>C
ENST00000703426.1:c.*801+1G>C ENSP00000515297.1:n.*801+1G>C
ENST00000703427.1:c.844+1G>C ENSP00000515298.1:n.844+1G>C
XM_005274149.1:c.946+1G>C XP_005274206.1:n.946+1G>C
XM_017018101.2:c.886+1G>C XP_016873590.1:n.886+1G>C
XM_017018102.1:c.844+1G>C XP_016873591.1:n.844+1G>C
XM_024448637.1:c.1456+1G>C XP_024304405.1:n.1456+1G>C
XM_024448638.1:c.1396+1G>C XP_024304406.1:n.1396+1G>C
XR_950008.1:n.872+1G>C
XR_950008.3:n.872+1G>C