Canonical Allele Identifier: CA42507807

Gene: ATP6V1C2

Linked Data

• dbSNP Id: rs947541093
• gnomAD v2: 2-10903504-G-A
• gnomAD v3: 2-10763378-G-A
• gnomAD v4: 2-10763378-G-A
• MyVariant Identifiers: chr2:g.10903504G>A (hg19) ; chr2:g.10763378G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.10763378G>A , CM000664.2:g.10763378G>A	GRCh38
NC_000002.11:g.10903504G>A , CM000664.1:g.10903504G>A	GRCh37
NC_000002.10:g.10820955G>A	NCBI36
NG_050575.1:g.47405G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272238.9:c.284-953G>A MANE Select	ENSP00000272238.4:n.284-953G>A
ENST00000648362.1:c.284-953G>A	ENSP00000497038.1:n.284-953G>A
ENST00000272238.8:c.284-953G>A	ENSP00000272238.4:n.284-953G>A
ENST00000381661.3:c.284-953G>A	ENSP00000371077.3:n.284-953G>A
ENST00000635370.1:c.314-953G>A	ENSP00000489280.1:n.314-953G>A
NM_001039362.1:c.284-953G>A	NP_001034451.1:n.284-953G>A
NM_144583.3:c.284-953G>A	NP_653184.2:n.284-953G>A
XM_011510339.1:c.314-953G>A	XP_011508641.1:n.314-953G>A
XM_011510340.1:c.314-953G>A	XP_011508642.1:n.314-953G>A
XM_011510341.1:c.314-953G>A	XP_011508643.1:n.314-953G>A
XR_922657.1:n.390-953G>A
XR_922658.1:n.364-953G>A
XR_922659.1:n.362-953G>A
XR_922660.1:n.504-953G>A
XR_922661.1:n.390-953G>A
XR_922662.1:n.386-953G>A
XR_922663.1:n.286-953G>A
XR_922664.1:n.94-953G>A
XM_011510339.3:c.314-953G>A	XP_011508641.1:n.314-953G>A
XM_011510340.3:c.314-953G>A	XP_011508642.1:n.314-953G>A
XM_011510341.2:c.314-953G>A	XP_011508643.1:n.314-953G>A
XM_017003745.2:c.284-953G>A	XP_016859234.1:n.284-953G>A
XR_922657.3:n.390-953G>A
XR_922658.3:n.365-953G>A
XR_922662.3:n.386-953G>A
XR_922663.3:n.286-953G>A
XR_922664.3:n.83-953G>A
NM_001039362.2:c.284-953G>A MANE Select	NP_001034451.1:n.284-953G>A
NM_144583.4:c.284-953G>A	NP_653184.2:n.284-953G>A