Canonical Allele Identifier: CA387157299

Gene: ATP6V0A2

Linked Data

• MyVariant Identifiers: chr12:g.124229158T>G (hg19) ; chr12:g.123744611T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744611T>G , CM000674.2:g.123744611T>G	GRCh38
NC_000012.11:g.124229158T>G , CM000674.1:g.124229158T>G	GRCh37
NC_000012.10:g.122795111T>G	NCBI36
NG_012743.1:g.37294T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1341T>G MANE Select	ENSP00000332247.2:p.Phe447Leu
ENST00000540368.6:n.1372T>G
ENST00000674794.1:c.1429T>G
ENST00000675260.1:n.616T>G
ENST00000675344.1:c.*362T>G	ENSP00000501953.1:n.*362T>G
ENST00000330342.7:c.1341T>G	ENSP00000332247.2:p.Phe447Leu
ENST00000504192.2:c.951T>G	ENSP00000443441.1:p.Phe317Leu
ENST00000536426.1:n.358T>G
ENST00000545059.5:n.3977T>G
NM_012463.3:c.1341T>G	NP_036595.2:p.Phe447Leu
XM_005253563.1:c.1341T>G	XP_005253620.1:p.Phe447Leu
XM_006719317.2:c.828T>G	XP_006719380.1:p.Phe276Leu
XM_006719318.2:c.519T>G	XP_006719381.1:p.Phe173Leu
XR_429088.1:n.1504T>G
XM_024448910.1:c.1341T>G	XP_024304678.1:p.Phe447Leu
XM_024448911.1:c.828T>G	XP_024304679.1:p.Phe276Leu
XM_024448912.1:c.519T>G	XP_024304680.1:p.Phe173Leu
NM_012463.4:c.1341T>G MANE Select	NP_036595.2:p.Phe447Leu