Canonical Allele Identifier: CA6861922

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 1511372
• ClinVar RCV Id: RCV002016671
• dbSNP Id: rs753076012
• ExAC: 12:124229216 A / G
• gnomAD v2: 12-124229216-A-G
• gnomAD v4: 12-123744669-A-G
• MyVariant Identifiers: chr12:g.124229216A>G (hg19) ; chr12:g.123744669A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744669A>G , CM000674.2:g.123744669A>G	GRCh38
NC_000012.11:g.124229216A>G , CM000674.1:g.124229216A>G	GRCh37
NC_000012.10:g.122795169A>G	NCBI36
NG_012743.1:g.37352A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1399A>G MANE Select	ENSP00000332247.2:p.Ile467Val
ENST00000540368.6:n.1430A>G
ENST00000674794.1:c.1487A>G
ENST00000675260.1:n.674A>G
ENST00000675344.1:c.*420A>G	ENSP00000501953.1:n.*420A>G
ENST00000330342.7:c.1399A>G	ENSP00000332247.2:p.Ile467Val
ENST00000536426.1:n.416A>G
ENST00000545059.5:n.4035A>G
NM_012463.3:c.1399A>G	NP_036595.2:p.Ile467Val
XM_005253563.1:c.1399A>G	XP_005253620.1:p.Ile467Val
XM_006719317.2:c.886A>G	XP_006719380.1:p.Ile296Val
XM_006719318.2:c.577A>G	XP_006719381.1:p.Ile193Val
XR_429088.1:n.1562A>G
XM_024448910.1:c.1399A>G	XP_024304678.1:p.Ile467Val
XM_024448911.1:c.886A>G	XP_024304679.1:p.Ile296Val
XM_024448912.1:c.577A>G	XP_024304680.1:p.Ile193Val
NM_012463.4:c.1399A>G MANE Select	NP_036595.2:p.Ile467Val