Canonical Allele Identifier: CA2526839744
Gene: ATP6V1C2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.10763328C>G , CM000664.2:g.10763328C>G GRCh38
NC_000002.11:g.10903454C>G , CM000664.1:g.10903454C>G GRCh37
NC_000002.10:g.10820905C>G NCBI36
NG_050575.1:g.47355C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272238.9:c.284-1003C>G MANE Select ENSP00000272238.4:n.284-1003C>G
ENST00000648362.1:c.284-1003C>G ENSP00000497038.1:n.284-1003C>G
ENST00000272238.8:c.284-1003C>G ENSP00000272238.4:n.284-1003C>G
ENST00000381661.3:c.284-1003C>G ENSP00000371077.3:n.284-1003C>G
ENST00000635370.1:c.314-1003C>G ENSP00000489280.1:n.314-1003C>G
NM_001039362.1:c.284-1003C>G NP_001034451.1:n.284-1003C>G
NM_144583.3:c.284-1003C>G NP_653184.2:n.284-1003C>G
XM_011510339.1:c.314-1003C>G XP_011508641.1:n.314-1003C>G
XM_011510340.1:c.314-1003C>G XP_011508642.1:n.314-1003C>G
XM_011510341.1:c.314-1003C>G XP_011508643.1:n.314-1003C>G
XR_922657.1:n.390-1003C>G
XR_922658.1:n.364-1003C>G
XR_922659.1:n.362-1003C>G
XR_922660.1:n.504-1003C>G
XR_922661.1:n.390-1003C>G
XR_922662.1:n.386-1003C>G
XR_922663.1:n.286-1003C>G
XR_922664.1:n.94-1003C>G
XM_011510339.3:c.314-1003C>G XP_011508641.1:n.314-1003C>G
XM_011510340.3:c.314-1003C>G XP_011508642.1:n.314-1003C>G
XM_011510341.2:c.314-1003C>G XP_011508643.1:n.314-1003C>G
XM_017003745.2:c.284-1003C>G XP_016859234.1:n.284-1003C>G
XR_922657.3:n.390-1003C>G
XR_922658.3:n.365-1003C>G
XR_922662.3:n.386-1003C>G
XR_922663.3:n.286-1003C>G
XR_922664.3:n.83-1003C>G
NM_001039362.2:c.284-1003C>G MANE Select NP_001034451.1:n.284-1003C>G
NM_144583.4:c.284-1003C>G NP_653184.2:n.284-1003C>G