Canonical Allele Identifier: CA398820159

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.38735548G>C , CM000679.2:g.38735548G>C GRCh38
NC_000017.10:g.36891801G>C , CM000679.1:g.36891801G>C GRCh37
NC_000017.9:g.34145327G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000613478.2:c.*2093G>C (CISD3) MANE Select ENSP00000483781.1:n.*2093G>C
ENST00000620225.5:c.710C>G (PCGF2) MANE Select ENSP00000482815.1:p.Thr237Ser
ENST00000610747.1:c.49C>G (PCGF2)
ENST00000611883.4:c.710C>G (PCGF2) ENSP00000478970.1:p.Thr237Ser
ENST00000616129.4:c.714C>G (PCGF2) ENSP00000484201.1:p.His238Gln
ENST00000616199.4:c.710C>G (PCGF2) ENSP00000482063.1:p.Thr237Ser
ENST00000618506.1:c.552C>G (PCGF2) ENSP00000484721.1:p.His184Gln
ENST00000618941.4:c.714C>G (PCGF2) ENSP00000481656.1:p.His238Gln
ENST00000620225.4:c.710C>G (PCGF2) ENSP00000482815.1:p.Thr237Ser
NM_001136498.1:c.*2093G>C (CISD3) NP_001129970.1:n.*2093G>C
NM_007144.2:c.710C>G (PCGF2) NP_009075.1:p.Thr237Ser
XM_005257640.1:c.710C>G (PCGF2) XP_005257697.1:p.Thr237Ser
XM_005257641.3:c.710C>G (PCGF2) XP_005257698.1:p.Thr237Ser
XM_005257642.2:c.710C>G (PCGF2) XP_005257699.1:p.Thr237Ser
XM_005257640.2:c.710C>G (PCGF2) XP_005257697.1:p.Thr237Ser
XM_005257641.5:c.710C>G (PCGF2) XP_005257698.1:p.Thr237Ser
XM_005257642.3:c.710C>G (PCGF2) XP_005257699.1:p.Thr237Ser
XM_017025016.1:c.710C>G (PCGF2) XP_016880505.1:p.Thr237Ser
NM_007144.3:c.710C>G (PCGF2) MANE Select NP_009075.1:p.Thr237Ser
NM_001136498.2:c.*2093G>C (CISD3) MANE Select NP_001129970.1:n.*2093G>C
NM_001369614.1:c.710C>G (PCGF2) NP_001356543.1:p.Thr237Ser
NM_001369615.1:c.710C>G (PCGF2) NP_001356544.1:p.Thr237Ser