Canonical Allele Identifier: CA413484667
Gene: GDPD2 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.70426398G>A , CM000685.2:g.70426398G>A GRCh38
NC_000023.10:g.69646248G>A , CM000685.1:g.69646248G>A GRCh37
NC_000023.9:g.69562973G>A NCBI36
NG_016413.1:g.8368G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374382.4:c.391G>A MANE Select ENSP00000363503.3:p.Val131Met
ENST00000374382.3:c.391G>A ENSP00000363503.3:p.Val131Met
ENST00000453994.6:c.391G>A ENSP00000414019.2:p.Val131Met
ENST00000472623.1:n.124G>A
ENST00000536730.5:c.154G>A ENSP00000445982.1:p.Val52Met
ENST00000538649.5:c.154G>A ENSP00000444601.1:p.Val52Met
NM_001171191.1:c.154G>A NP_001164662.1:p.Val52Met
NM_001171192.1:c.391G>A NP_001164663.1:p.Val131Met
NM_001171193.1:c.154G>A NP_001164664.1:p.Val52Met
NM_017711.3:c.391G>A NP_060181.2:p.Val131Met
XM_011530977.1:c.10G>A XP_011529279.1:p.Val4Met
XM_017029614.1:c.-347G>A XP_016885103.1:n.-347G>A
NM_001171191.2:c.154G>A NP_001164662.1:p.Val52Met
NM_001171192.2:c.391G>A NP_001164663.1:p.Val131Met
NM_001171193.2:c.154G>A NP_001164664.1:p.Val52Met
NM_017711.4:c.391G>A MANE Select NP_060181.2:p.Val131Met