Canonical Allele Identifier: CA148585

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 95515
• ClinVar RCV Id: RCV000081542 ; RCV000305731 ; RCV000339426 ; RCV000407551 ; RCV001111206
• dbSNP Id: rs1139320
• ExAC: 12:124197099 C / T
• gnomAD v2: 12-124197099-C-T
• gnomAD v3: 12-123712552-C-T
• gnomAD v4: 12-123712552-C-T
• MyVariant Identifiers: chr12:g.124197099C>T (hg19) ; chr12:g.123712552C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123712552C>T , CM000674.2:g.123712552C>T	GRCh38
NC_000012.11:g.124197099C>T , CM000674.1:g.124197099C>T	GRCh37
NC_000012.10:g.122763052C>T	NCBI36
NG_012743.1:g.5235C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.-14C>T MANE Select	ENSP00000332247.2:n.-14C>T
ENST00000540368.6:n.18C>T
ENST00000613625.5:c.-14C>T	ENSP00000482236.1:n.-14C>T
ENST00000675344.1:c.-14C>T	ENSP00000501953.1:n.-14C>T
ENST00000330342.7:c.-14C>T	ENSP00000332247.2:n.-14C>T
ENST00000540368.5:n.197C>T
ENST00000613625.4:c.-14C>T	ENSP00000482236.1:n.-14C>T
NM_012463.3:c.-14C>T	NP_036595.2:n.-14C>T
XM_005253563.1:c.-14C>T	XP_005253620.1:n.-14C>T
XR_429088.1:n.150C>T
XM_024448910.1:c.-14C>T	XP_024304678.1:n.-14C>T
NM_012463.4:c.-14C>T MANE Select	NP_036595.2:n.-14C>T