Canonical Allele Identifier: CA608101951

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs1162598657
• gnomAD v2: 12-124228589-G-T
• gnomAD v4: 12-123744042-G-T
• MyVariant Identifiers: chr12:g.124228589G>T (hg19) ; chr12:g.123744042G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744042G>T , CM000674.2:g.123744042G>T	GRCh38
NC_000012.11:g.124228589G>T , CM000674.1:g.124228589G>T	GRCh37
NC_000012.10:g.122794542G>T	NCBI36
NG_012743.1:g.36725G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1189+107G>T MANE Select	ENSP00000332247.2:n.1189+107G>T
ENST00000540368.6:n.1220+107G>T
ENST00000674794.1:c.1277+107G>T
ENST00000675260.1:n.464+107G>T
ENST00000675344.1:c.*210+107G>T	ENSP00000501953.1:n.*210+107G>T
ENST00000330342.7:c.1189+107G>T	ENSP00000332247.2:n.1189+107G>T
ENST00000504192.2:c.799+107G>T	ENSP00000443441.1:n.799+107G>T
ENST00000536426.1:n.206+107G>T
ENST00000545059.5:n.3825+107G>T
NM_012463.3:c.1189+107G>T	NP_036595.2:n.1189+107G>T
XM_005253563.1:c.1189+107G>T	XP_005253620.1:n.1189+107G>T
XM_006719317.2:c.676+107G>T	XP_006719380.1:n.676+107G>T
XM_006719318.2:c.367+107G>T	XP_006719381.1:n.367+107G>T
XR_429088.1:n.1352+107G>T
XM_024448910.1:c.1189+107G>T	XP_024304678.1:n.1189+107G>T
XM_024448911.1:c.676+107G>T	XP_024304679.1:n.676+107G>T
XM_024448912.1:c.367+107G>T	XP_024304680.1:n.367+107G>T
NM_012463.4:c.1189+107G>T MANE Select	NP_036595.2:n.1189+107G>T