Canonical Allele Identifier: CA1027526577

Gene: ATP6V1C2

Linked Data

• dbSNP Id: rs1664034272
• gnomAD v3: 2-10763360-T-C
• gnomAD v4: 2-10763360-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.10763360T>C , CM000664.2:g.10763360T>C	GRCh38
NC_000002.11:g.10903486T>C , CM000664.1:g.10903486T>C	GRCh37
NC_000002.10:g.10820937T>C	NCBI36
NG_050575.1:g.47387T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272238.9:c.284-971T>C MANE Select	ENSP00000272238.4:n.284-971T>C
ENST00000648362.1:c.284-971T>C	ENSP00000497038.1:n.284-971T>C
ENST00000272238.8:c.284-971T>C	ENSP00000272238.4:n.284-971T>C
ENST00000381661.3:c.284-971T>C	ENSP00000371077.3:n.284-971T>C
ENST00000635370.1:c.314-971T>C	ENSP00000489280.1:n.314-971T>C
NM_001039362.1:c.284-971T>C	NP_001034451.1:n.284-971T>C
NM_144583.3:c.284-971T>C	NP_653184.2:n.284-971T>C
XM_011510339.1:c.314-971T>C	XP_011508641.1:n.314-971T>C
XM_011510340.1:c.314-971T>C	XP_011508642.1:n.314-971T>C
XM_011510341.1:c.314-971T>C	XP_011508643.1:n.314-971T>C
XR_922657.1:n.390-971T>C
XR_922658.1:n.364-971T>C
XR_922659.1:n.362-971T>C
XR_922660.1:n.504-971T>C
XR_922661.1:n.390-971T>C
XR_922662.1:n.386-971T>C
XR_922663.1:n.286-971T>C
XR_922664.1:n.94-971T>C
XM_011510339.3:c.314-971T>C	XP_011508641.1:n.314-971T>C
XM_011510340.3:c.314-971T>C	XP_011508642.1:n.314-971T>C
XM_011510341.2:c.314-971T>C	XP_011508643.1:n.314-971T>C
XM_017003745.2:c.284-971T>C	XP_016859234.1:n.284-971T>C
XR_922657.3:n.390-971T>C
XR_922658.3:n.365-971T>C
XR_922662.3:n.386-971T>C
XR_922663.3:n.286-971T>C
XR_922664.3:n.83-971T>C
NM_001039362.2:c.284-971T>C MANE Select	NP_001034451.1:n.284-971T>C
NM_144583.4:c.284-971T>C	NP_653184.2:n.284-971T>C