Canonical Allele Identifier: CA608101963

Gene: ATP6V0A2

Linked Data

• gnomAD v2: 12-124228773-G-GGTT
• MyVariant Identifiers: chr12:g.124228773_124228774insGTT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744226_123744227insGTT , CM000674.2:g.123744226_123744227insGTT	GRCh38
NC_000012.11:g.124228773_124228774insGTT , CM000674.1:g.124228773_124228774insGTT	GRCh37
NC_000012.10:g.122794726_122794727insGTT	NCBI36
NG_012743.1:g.36909_36910insGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1215_1216insGTT MANE Select	ENSP00000332247.2:p.Pro405_Phe406insVal
ENST00000540368.6:n.1246_1247insGTT
ENST00000674794.1:c.1303_1304insGTT
ENST00000675260.1:n.490_491insGTT
ENST00000675344.1:c.*236_*237insGTT	ENSP00000501953.1:n.*236_*237insGTT
ENST00000330342.7:c.1215_1216insGTT	ENSP00000332247.2:p.Pro405_Phe406insVal
ENST00000504192.2:c.825_826insGTT	ENSP00000443441.1:p.Pro275_Phe276insVal
ENST00000536426.1:n.232_233insGTT
ENST00000545059.5:n.3851_3852insGTT
NM_012463.3:c.1215_1216insGTT	NP_036595.2:p.Pro405_Phe406insVal
XM_005253563.1:c.1215_1216insGTT	XP_005253620.1:p.Pro405_Phe406insVal
XM_006719317.2:c.702_703insGTT	XP_006719380.1:p.Pro234_Phe235insVal
XM_006719318.2:c.393_394insGTT	XP_006719381.1:p.Pro131_Phe132insVal
XR_429088.1:n.1378_1379insGTT
XM_024448910.1:c.1215_1216insGTT	XP_024304678.1:p.Pro405_Phe406insVal
XM_024448911.1:c.702_703insGTT	XP_024304679.1:p.Pro234_Phe235insVal
XM_024448912.1:c.393_394insGTT	XP_024304680.1:p.Pro131_Phe132insVal
NM_012463.4:c.1215_1216insGTT MANE Select	NP_036595.2:p.Pro405_Phe406insVal