Canonical Allele Identifier: CA398820291

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.38735597C>G , CM000679.2:g.38735597C>G GRCh38
NC_000017.10:g.36891850C>G , CM000679.1:g.36891850C>G GRCh37
NC_000017.9:g.34145376C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000613478.2:c.*2142C>G (CISD3) MANE Select ENSP00000483781.1:n.*2142C>G
ENST00000620225.5:c.661G>C (PCGF2) MANE Select ENSP00000482815.1:p.Gly221Arg
ENST00000611883.4:c.661G>C (PCGF2) ENSP00000478970.1:p.Gly221Arg
ENST00000616129.4:c.665G>C (PCGF2) ENSP00000484201.1:p.Arg222Pro
ENST00000616199.4:c.661G>C (PCGF2) ENSP00000482063.1:p.Gly221Arg
ENST00000618506.1:c.503G>C (PCGF2) ENSP00000484721.1:p.Arg168Pro
ENST00000618941.4:c.665G>C (PCGF2) ENSP00000481656.1:p.Arg222Pro
ENST00000620225.4:c.661G>C (PCGF2) ENSP00000482815.1:p.Gly221Arg
NM_001136498.1:c.*2142C>G (CISD3) NP_001129970.1:n.*2142C>G
NM_007144.2:c.661G>C (PCGF2) NP_009075.1:p.Gly221Arg
XM_005257640.1:c.661G>C (PCGF2) XP_005257697.1:p.Gly221Arg
XM_005257641.3:c.661G>C (PCGF2) XP_005257698.1:p.Gly221Arg
XM_005257642.2:c.661G>C (PCGF2) XP_005257699.1:p.Gly221Arg
XM_005257640.2:c.661G>C (PCGF2) XP_005257697.1:p.Gly221Arg
XM_005257641.5:c.661G>C (PCGF2) XP_005257698.1:p.Gly221Arg
XM_005257642.3:c.661G>C (PCGF2) XP_005257699.1:p.Gly221Arg
XM_017025016.1:c.661G>C (PCGF2) XP_016880505.1:p.Gly221Arg
NM_007144.3:c.661G>C (PCGF2) MANE Select NP_009075.1:p.Gly221Arg
NM_001136498.2:c.*2142C>G (CISD3) MANE Select NP_001129970.1:n.*2142C>G
NM_001369614.1:c.661G>C (PCGF2) NP_001356543.1:p.Gly221Arg
NM_001369615.1:c.661G>C (PCGF2) NP_001356544.1:p.Gly221Arg