Canonical Allele Identifier: CA387157459

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs1353010546
• gnomAD v2: 12-124229195-T-G
• gnomAD v4: 12-123744648-T-G
• MyVariant Identifiers: chr12:g.124229195T>G (hg19) ; chr12:g.123744648T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744648T>G , CM000674.2:g.123744648T>G	GRCh38
NC_000012.11:g.124229195T>G , CM000674.1:g.124229195T>G	GRCh37
NC_000012.10:g.122795148T>G	NCBI36
NG_012743.1:g.37331T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1378T>G MANE Select	ENSP00000332247.2:p.Phe460Val
ENST00000540368.6:n.1409T>G
ENST00000674794.1:c.1466T>G
ENST00000675260.1:n.653T>G
ENST00000675344.1:c.*399T>G	ENSP00000501953.1:n.*399T>G
ENST00000330342.7:c.1378T>G	ENSP00000332247.2:p.Phe460Val
ENST00000536426.1:n.395T>G
ENST00000545059.5:n.4014T>G
NM_012463.3:c.1378T>G	NP_036595.2:p.Phe460Val
XM_005253563.1:c.1378T>G	XP_005253620.1:p.Phe460Val
XM_006719317.2:c.865T>G	XP_006719380.1:p.Phe289Val
XM_006719318.2:c.556T>G	XP_006719381.1:p.Phe186Val
XR_429088.1:n.1541T>G
XM_024448910.1:c.1378T>G	XP_024304678.1:p.Phe460Val
XM_024448911.1:c.865T>G	XP_024304679.1:p.Phe289Val
XM_024448912.1:c.556T>G	XP_024304680.1:p.Phe186Val
NM_012463.4:c.1378T>G MANE Select	NP_036595.2:p.Phe460Val