Canonical Allele Identifier: CA200270089
Gene: DPM2 HGNC NCBI
ClinVar RCV:
RCV001910751
ClinVar Variation:
1419961
dbSNP:
1026866240
gnomAD v2:
9:130699732 G / C
gnomAD v3:
9:127937453 G / C
gnomAD v4:
chr9-127937453-G-C
Joint Max Group AF 0.00011209 (AFR)
Genomes Max Group AF 0.00007891 (AFR)
Exomes Max Group AF 0.00009752 (AFR)
MyVariant.info:
GRCh38 chr9:g.127937453G>C
GRCh37 chr9:g.130699732G>C
Revel Score:
ENST00000314392 (MANE Select) 0.174
ENST00000373110 0.174
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127937453G>C , CM000671.2:g.127937453G>C GRCh38
NC_000009.11:g.130699732G>C , CM000671.1:g.130699732G>C GRCh37
NC_000009.10:g.129739553G>C NCBI36
NG_032927.1:g.6032C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000314392.13:c.74C>G MANE Select ENSP00000322181.8:p.Thr25Ser
ENST00000314392.12:c.74C>G ENSP00000322181.8:p.Thr25Ser
ENST00000373110.4:c.74C>G ENSP00000362202.4:p.Thr25Ser
ENST00000470181.1:n.366C>G
ENST00000473360.1:n.327C>G
ENST00000495270.1:n.80C>G
NM_003863.3:c.74C>G NP_003854.1:p.Thr25Ser
NM_003863.4:c.74C>G MANE Select NP_003854.1:p.Thr25Ser
NM_001378436.1:c.74C>G NP_001365365.1:p.Thr25Ser
NM_001378437.1:c.3+365C>G NP_001365366.1:n.3+365C>G
NR_165631.1:n.108C>G
NR_165632.1:n.37+365C>G
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