Canonical Allele Identifier: CA42507750

Gene: ATP6V1C2

Linked Data

• dbSNP Id: rs753851680
• MyVariant Identifiers: chr2:g.10903427_10903428del (hg19) ; chr2:g.10763301_10763302del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.10763304_10763305del , CM000664.2:g.10763304_10763305del	GRCh38
NC_000002.11:g.10903430_10903431del , CM000664.1:g.10903430_10903431del	GRCh37
NC_000002.10:g.10820881_10820882del	NCBI36
NG_050575.1:g.47331_47332del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272238.9:c.284-1027_284-1026del MANE Select	ENSP00000272238.4:n.284-1027_284-1026del
ENST00000648362.1:c.284-1027_284-1026del	ENSP00000497038.1:n.284-1027_284-1026del
ENST00000272238.8:c.284-1027_284-1026del	ENSP00000272238.4:n.284-1027_284-1026del
ENST00000381661.3:c.284-1027_284-1026del	ENSP00000371077.3:n.284-1027_284-1026del
ENST00000635370.1:c.314-1027_314-1026del	ENSP00000489280.1:n.314-1027_314-1026del
NM_001039362.1:c.284-1027_284-1026del	NP_001034451.1:n.284-1027_284-1026del
NM_144583.3:c.284-1027_284-1026del	NP_653184.2:n.284-1027_284-1026del
XM_011510339.1:c.314-1027_314-1026del	XP_011508641.1:n.314-1027_314-1026del
XM_011510340.1:c.314-1027_314-1026del	XP_011508642.1:n.314-1027_314-1026del
XM_011510341.1:c.314-1027_314-1026del	XP_011508643.1:n.314-1027_314-1026del
XR_922657.1:n.390-1027_390-1026del
XR_922658.1:n.364-1027_364-1026del
XR_922659.1:n.362-1027_362-1026del
XR_922660.1:n.504-1027_504-1026del
XR_922661.1:n.390-1027_390-1026del
XR_922662.1:n.386-1027_386-1026del
XR_922663.1:n.286-1027_286-1026del
XR_922664.1:n.94-1027_94-1026del
XM_011510339.3:c.314-1027_314-1026del	XP_011508641.1:n.314-1027_314-1026del
XM_011510340.3:c.314-1027_314-1026del	XP_011508642.1:n.314-1027_314-1026del
XM_011510341.2:c.314-1027_314-1026del	XP_011508643.1:n.314-1027_314-1026del
XM_017003745.2:c.284-1027_284-1026del	XP_016859234.1:n.284-1027_284-1026del
XR_922657.3:n.390-1027_390-1026del
XR_922658.3:n.365-1027_365-1026del
XR_922662.3:n.386-1027_386-1026del
XR_922663.3:n.286-1027_286-1026del
XR_922664.3:n.83-1027_83-1026del
NM_001039362.2:c.284-1027_284-1026del MANE Select	NP_001034451.1:n.284-1027_284-1026del
NM_144583.4:c.284-1027_284-1026del	NP_653184.2:n.284-1027_284-1026del