Canonical Allele Identifier: CA387155975

Gene: ATP6V0A2

Linked Data

• gnomAD v4: 12-123743923-G-T
• MyVariant Identifiers: chr12:g.124228470G>T (hg19) ; chr12:g.123743923G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743923G>T , CM000674.2:g.123743923G>T	GRCh38
NC_000012.11:g.124228470G>T , CM000674.1:g.124228470G>T	GRCh37
NC_000012.10:g.122794423G>T	NCBI36
NG_012743.1:g.36606G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1177G>T MANE Select	ENSP00000332247.2:p.Glu393Ter
ENST00000540368.6:n.1208G>T
ENST00000674794.1:c.1265G>T
ENST00000675260.1:n.452G>T
ENST00000675344.1:c.*198G>T	ENSP00000501953.1:n.*198G>T
ENST00000330342.7:c.1177G>T	ENSP00000332247.2:p.Glu393Ter
ENST00000504192.2:c.787G>T	ENSP00000443441.1:p.Glu263Ter
ENST00000536426.1:n.194G>T
ENST00000545059.5:n.3813G>T
NM_012463.3:c.1177G>T	NP_036595.2:p.Glu393Ter
XM_005253563.1:c.1177G>T	XP_005253620.1:p.Glu393Ter
XM_006719317.2:c.664G>T	XP_006719380.1:p.Glu222Ter
XM_006719318.2:c.355G>T	XP_006719381.1:p.Glu119Ter
XR_429088.1:n.1340G>T
XM_024448910.1:c.1177G>T	XP_024304678.1:p.Glu393Ter
XM_024448911.1:c.664G>T	XP_024304679.1:p.Glu222Ter
XM_024448912.1:c.355G>T	XP_024304680.1:p.Glu119Ter
NM_012463.4:c.1177G>T MANE Select	NP_036595.2:p.Glu393Ter