Canonical Allele Identifier: CA608101661

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs1259345523
• gnomAD v2: 12-124228329-AAG-A
• gnomAD v4: 12-123743782-AAG-A
• MyVariant Identifiers: chr12:g.124228330_124228331del (hg19) ; chr12:g.123743783_123743784del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743791_123743792del , CM000674.2:g.123743791_123743792del	GRCh38
NC_000012.11:g.124228338_124228339del , CM000674.1:g.124228338_124228339del	GRCh37
NC_000012.10:g.122794291_122794292del	NCBI36
NG_012743.1:g.36474_36475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1045_1046del
ENST00000540368.6:n.1076_1077del
ENST00000674794.1:c.1133_1134del
ENST00000675260.1:n.320_321del
ENST00000675344.1:c.*66_*67del
ENST00000330342.7:c.1045_1046del
ENST00000504192.2:c.655_656del
ENST00000536426.1:n.62_63del
ENST00000545059.5:n.3681_3682del
NM_012463.3:c.1045_1046del
XM_005253563.1:c.1045_1046del
XM_006719317.2:c.532_533del
XM_006719318.2:c.223_224del
XR_429088.1:n.1208_1209del
XM_024448910.1:c.1045_1046del
XM_024448911.1:c.532_533del
XM_024448912.1:c.223_224del
NM_012463.4:c.1045_1046del