Canonical Allele Identifier: CA608101952

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs1385025606
• gnomAD v2: 12-124228590-C-T
• gnomAD v4: 12-123744043-C-T
• MyVariant Identifiers: chr12:g.124228590C>T (hg19) ; chr12:g.123744043C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744043C>T , CM000674.2:g.123744043C>T	GRCh38
NC_000012.11:g.124228590C>T , CM000674.1:g.124228590C>T	GRCh37
NC_000012.10:g.122794543C>T	NCBI36
NG_012743.1:g.36726C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000330342.8:c.1189+108C>T MANE Select	ENSP00000332247.2:n.1189+108C>T
ENST00000540368.6:n.1220+108C>T
ENST00000674794.1:c.1277+108C>T
ENST00000675260.1:n.464+108C>T
ENST00000675344.1:c.*210+108C>T	ENSP00000501953.1:n.*210+108C>T
ENST00000330342.7:c.1189+108C>T	ENSP00000332247.2:n.1189+108C>T
ENST00000504192.2:c.799+108C>T	ENSP00000443441.1:n.799+108C>T
ENST00000536426.1:n.206+108C>T
ENST00000545059.5:n.3825+108C>T
NM_012463.3:c.1189+108C>T	NP_036595.2:n.1189+108C>T
XM_005253563.1:c.1189+108C>T	XP_005253620.1:n.1189+108C>T
XM_006719317.2:c.676+108C>T	XP_006719380.1:n.676+108C>T
XM_006719318.2:c.367+108C>T	XP_006719381.1:n.367+108C>T
XR_429088.1:n.1352+108C>T
XM_024448910.1:c.1189+108C>T	XP_024304678.1:n.1189+108C>T
XM_024448911.1:c.676+108C>T	XP_024304679.1:n.676+108C>T
XM_024448912.1:c.367+108C>T	XP_024304680.1:n.367+108C>T
NM_012463.4:c.1189+108C>T MANE Select	NP_036595.2:n.1189+108C>T