Canonical Allele Identifier: CA2621700820

Gene: ATP6V0A2

Linked Data

• gnomAD v4: 12-123744194-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744194T>C , CM000674.2:g.123744194T>C	GRCh38
NC_000012.11:g.124228741T>C , CM000674.1:g.124228741T>C	GRCh37
NC_000012.10:g.122794694T>C	NCBI36
NG_012743.1:g.36877T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1190-7T>C MANE Select	ENSP00000332247.2:n.1190-7T>C
ENST00000540368.6:n.1221-7T>C
ENST00000674794.1:c.1278-7T>C
ENST00000675260.1:n.465-7T>C
ENST00000675344.1:c.*211-7T>C	ENSP00000501953.1:n.*211-7T>C
ENST00000330342.7:c.1190-7T>C	ENSP00000332247.2:n.1190-7T>C
ENST00000504192.2:c.800-7T>C	ENSP00000443441.1:n.800-7T>C
ENST00000536426.1:n.207-7T>C
ENST00000545059.5:n.3826-7T>C
NM_012463.3:c.1190-7T>C	NP_036595.2:n.1190-7T>C
XM_005253563.1:c.1190-7T>C	XP_005253620.1:n.1190-7T>C
XM_006719317.2:c.677-7T>C	XP_006719380.1:n.677-7T>C
XM_006719318.2:c.368-7T>C	XP_006719381.1:n.368-7T>C
XR_429088.1:n.1353-7T>C
XM_024448910.1:c.1190-7T>C	XP_024304678.1:n.1190-7T>C
XM_024448911.1:c.677-7T>C	XP_024304679.1:n.677-7T>C
XM_024448912.1:c.368-7T>C	XP_024304680.1:n.368-7T>C
NM_012463.4:c.1190-7T>C MANE Select	NP_036595.2:n.1190-7T>C