Canonical Allele Identifier: CA42507801

Gene: ATP6V1C2

Linked Data

• dbSNP Id: rs575917776
• gnomAD v2: 2-10903485-C-T
• gnomAD v3: 2-10763359-C-T
• gnomAD v4: 2-10763359-C-T
• MyVariant Identifiers: chr2:g.10903485C>T (hg19) ; chr2:g.10763359C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.10763359C>T , CM000664.2:g.10763359C>T	GRCh38
NC_000002.11:g.10903485C>T , CM000664.1:g.10903485C>T	GRCh37
NC_000002.10:g.10820936C>T	NCBI36
NG_050575.1:g.47386C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272238.9:c.284-972C>T MANE Select	ENSP00000272238.4:n.284-972C>T
ENST00000648362.1:c.284-972C>T	ENSP00000497038.1:n.284-972C>T
ENST00000272238.8:c.284-972C>T	ENSP00000272238.4:n.284-972C>T
ENST00000381661.3:c.284-972C>T	ENSP00000371077.3:n.284-972C>T
ENST00000635370.1:c.314-972C>T	ENSP00000489280.1:n.314-972C>T
NM_001039362.1:c.284-972C>T	NP_001034451.1:n.284-972C>T
NM_144583.3:c.284-972C>T	NP_653184.2:n.284-972C>T
XM_011510339.1:c.314-972C>T	XP_011508641.1:n.314-972C>T
XM_011510340.1:c.314-972C>T	XP_011508642.1:n.314-972C>T
XM_011510341.1:c.314-972C>T	XP_011508643.1:n.314-972C>T
XR_922657.1:n.390-972C>T
XR_922658.1:n.364-972C>T
XR_922659.1:n.362-972C>T
XR_922660.1:n.504-972C>T
XR_922661.1:n.390-972C>T
XR_922662.1:n.386-972C>T
XR_922663.1:n.286-972C>T
XR_922664.1:n.94-972C>T
XM_011510339.3:c.314-972C>T	XP_011508641.1:n.314-972C>T
XM_011510340.3:c.314-972C>T	XP_011508642.1:n.314-972C>T
XM_011510341.2:c.314-972C>T	XP_011508643.1:n.314-972C>T
XM_017003745.2:c.284-972C>T	XP_016859234.1:n.284-972C>T
XR_922657.3:n.390-972C>T
XR_922658.3:n.365-972C>T
XR_922662.3:n.386-972C>T
XR_922663.3:n.286-972C>T
XR_922664.3:n.83-972C>T
NM_001039362.2:c.284-972C>T MANE Select	NP_001034451.1:n.284-972C>T
NM_144583.4:c.284-972C>T	NP_653184.2:n.284-972C>T