Canonical Allele Identifier: CA482270843

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs1956632841
• MyVariant Identifiers: chr12:g.124228376C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743829C>T , CM000674.2:g.123743829C>T	GRCh38
NC_000012.11:g.124228376C>T , CM000674.1:g.124228376C>T	GRCh37
NC_000012.10:g.122794329C>T	NCBI36
NG_012743.1:g.36512C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1083C>T MANE Select	ENSP00000332247.2:p.Pro361=
ENST00000540368.6:n.1114C>T
ENST00000674794.1:c.1171C>T
ENST00000675260.1:n.358C>T
ENST00000675344.1:c.*104C>T	ENSP00000501953.1:n.*104C>T
ENST00000330342.7:c.1083C>T	ENSP00000332247.2:p.Pro361=
ENST00000504192.2:c.693C>T	ENSP00000443441.1:p.Pro231=
ENST00000536426.1:n.100C>T
ENST00000545059.5:n.3719C>T
NM_012463.3:c.1083C>T	NP_036595.2:p.Pro361=
XM_005253563.1:c.1083C>T	XP_005253620.1:p.Pro361=
XM_006719317.2:c.570C>T	XP_006719380.1:p.Pro190=
XM_006719318.2:c.261C>T	XP_006719381.1:p.Pro87=
XR_429088.1:n.1246C>T
XM_024448910.1:c.1083C>T	XP_024304678.1:p.Pro361=
XM_024448911.1:c.570C>T	XP_024304679.1:p.Pro190=
XM_024448912.1:c.261C>T	XP_024304680.1:p.Pro87=
NM_012463.4:c.1083C>T MANE Select	NP_036595.2:p.Pro361=