Canonical Allele Identifier: CA128388518
Gene: PCBD2 HGNC NCBI
MTND5P11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.134926382A>G , CM000667.2:g.134926382A>G GRCh38
NC_000005.9:g.134262072A>G , CM000667.1:g.134262072A>G GRCh37
NC_000005.8:g.134289971A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000254908.11:c.216+15916A>G (PCBD2) MANE Select ENSP00000254908.6:n.216+15916A>G
ENST00000254908.10:c.216+15916A>G (PCBD2) ENSP00000254908.6:n.216+15916A>G
ENST00000504352.1:c.183+15916A>G (PCBD2) ENSP00000426161.1:n.183+15916A>G
ENST00000510013.1:n.305+15916A>G (PCBD2)
ENST00000511037.1:n.78T>C (MTND5P11)
ENST00000512783.5:c.216+15916A>G (PCBD2) ENSP00000421544.1:n.216+15916A>G
NM_032151.4:c.216+15916A>G (PCBD2) NP_115527.3:n.216+15916A>G
NM_032151.5:c.216+15916A>G (PCBD2) MANE Select NP_115527.3:n.216+15916A>G