Canonical Allele Identifier: CA42507672

Gene: ATP6V1C2

Linked Data

• dbSNP Id: rs535064634
• gnomAD v3: 2-10763221-T-C
• gnomAD v4: 2-10763221-T-C
• MyVariant Identifiers: chr2:g.10903347T>C (hg19) ; chr2:g.10763221T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.10763221T>C , CM000664.2:g.10763221T>C	GRCh38
NC_000002.11:g.10903347T>C , CM000664.1:g.10903347T>C	GRCh37
NC_000002.10:g.10820798T>C	NCBI36
NG_050575.1:g.47248T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272238.9:c.284-1110T>C MANE Select	ENSP00000272238.4:n.284-1110T>C
ENST00000648362.1:c.284-1110T>C	ENSP00000497038.1:n.284-1110T>C
ENST00000272238.8:c.284-1110T>C	ENSP00000272238.4:n.284-1110T>C
ENST00000381661.3:c.284-1110T>C	ENSP00000371077.3:n.284-1110T>C
ENST00000635370.1:c.314-1110T>C	ENSP00000489280.1:n.314-1110T>C
NM_001039362.1:c.284-1110T>C	NP_001034451.1:n.284-1110T>C
NM_144583.3:c.284-1110T>C	NP_653184.2:n.284-1110T>C
XM_011510339.1:c.314-1110T>C	XP_011508641.1:n.314-1110T>C
XM_011510340.1:c.314-1110T>C	XP_011508642.1:n.314-1110T>C
XM_011510341.1:c.314-1110T>C	XP_011508643.1:n.314-1110T>C
XR_922657.1:n.390-1110T>C
XR_922658.1:n.364-1110T>C
XR_922659.1:n.362-1110T>C
XR_922660.1:n.504-1110T>C
XR_922661.1:n.390-1110T>C
XR_922662.1:n.386-1110T>C
XR_922663.1:n.286-1110T>C
XR_922664.1:n.94-1110T>C
XM_011510339.3:c.314-1110T>C	XP_011508641.1:n.314-1110T>C
XM_011510340.3:c.314-1110T>C	XP_011508642.1:n.314-1110T>C
XM_011510341.2:c.314-1110T>C	XP_011508643.1:n.314-1110T>C
XM_017003745.2:c.284-1110T>C	XP_016859234.1:n.284-1110T>C
XR_922657.3:n.390-1110T>C
XR_922658.3:n.365-1110T>C
XR_922662.3:n.386-1110T>C
XR_922663.3:n.286-1110T>C
XR_922664.3:n.83-1110T>C
NM_001039362.2:c.284-1110T>C MANE Select	NP_001034451.1:n.284-1110T>C
NM_144583.4:c.284-1110T>C	NP_653184.2:n.284-1110T>C