Canonical Allele Identifier: CA6861840

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 1439038
• ClinVar RCV Id: RCV001974852
• dbSNP Id: rs147833091
• ExAC: 12:124228392 C / G
• gnomAD v2: 12-124228392-C-G
• gnomAD v3: 12-123743845-C-G
• gnomAD v4: 12-123743845-C-G
• MyVariant Identifiers: chr12:g.124228392C>G (hg19) ; chr12:g.123743845C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743845C>G , CM000674.2:g.123743845C>G	GRCh38
NC_000012.11:g.124228392C>G , CM000674.1:g.124228392C>G	GRCh37
NC_000012.10:g.122794345C>G	NCBI36
NG_012743.1:g.36528C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1099C>G MANE Select	ENSP00000332247.2:p.Pro367Ala
ENST00000540368.6:n.1130C>G
ENST00000674794.1:c.1187C>G
ENST00000675260.1:n.374C>G
ENST00000675344.1:c.*120C>G	ENSP00000501953.1:n.*120C>G
ENST00000330342.7:c.1099C>G	ENSP00000332247.2:p.Pro367Ala
ENST00000504192.2:c.709C>G	ENSP00000443441.1:p.Pro237Ala
ENST00000536426.1:n.116C>G
ENST00000545059.5:n.3735C>G
NM_012463.3:c.1099C>G	NP_036595.2:p.Pro367Ala
XM_005253563.1:c.1099C>G	XP_005253620.1:p.Pro367Ala
XM_006719317.2:c.586C>G	XP_006719380.1:p.Pro196Ala
XM_006719318.2:c.277C>G	XP_006719381.1:p.Pro93Ala
XR_429088.1:n.1262C>G
XM_024448910.1:c.1099C>G	XP_024304678.1:p.Pro367Ala
XM_024448911.1:c.586C>G	XP_024304679.1:p.Pro196Ala
XM_024448912.1:c.277C>G	XP_024304680.1:p.Pro93Ala
NM_012463.4:c.1099C>G MANE Select	NP_036595.2:p.Pro367Ala