Canonical Allele Identifier: CA387156226

Gene: ATP6V0A2

Linked Data

• MyVariant Identifiers: chr12:g.124228763T>G (hg19) ; chr12:g.123744216T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744216T>G , CM000674.2:g.123744216T>G	GRCh38
NC_000012.11:g.124228763T>G , CM000674.1:g.124228763T>G	GRCh37
NC_000012.10:g.122794716T>G	NCBI36
NG_012743.1:g.36899T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1205T>G MANE Select	ENSP00000332247.2:p.Ile402Ser
ENST00000540368.6:n.1236T>G
ENST00000674794.1:c.1293T>G
ENST00000675260.1:n.480T>G
ENST00000675344.1:c.*226T>G	ENSP00000501953.1:n.*226T>G
ENST00000330342.7:c.1205T>G	ENSP00000332247.2:p.Ile402Ser
ENST00000504192.2:c.815T>G	ENSP00000443441.1:p.Ile272Ser
ENST00000536426.1:n.222T>G
ENST00000545059.5:n.3841T>G
NM_012463.3:c.1205T>G	NP_036595.2:p.Ile402Ser
XM_005253563.1:c.1205T>G	XP_005253620.1:p.Ile402Ser
XM_006719317.2:c.692T>G	XP_006719380.1:p.Ile231Ser
XM_006719318.2:c.383T>G	XP_006719381.1:p.Ile128Ser
XR_429088.1:n.1368T>G
XM_024448910.1:c.1205T>G	XP_024304678.1:p.Ile402Ser
XM_024448911.1:c.692T>G	XP_024304679.1:p.Ile231Ser
XM_024448912.1:c.383T>G	XP_024304680.1:p.Ile128Ser
NM_012463.4:c.1205T>G MANE Select	NP_036595.2:p.Ile402Ser