Canonical Allele Identifier: CA2580085956

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123727922C>T , CM000674.2:g.123727922C>T	GRCh38
NC_000012.11:g.124212469C>T , CM000674.1:g.124212469C>T	GRCh37
NC_000012.10:g.122778422C>T	NCBI36
NG_012743.1:g.20605C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012463.4:c.648+13C>T MANE Select	NP_036595.2:n.648+13C>T
ENST00000330342.8:c.648+13C>T MANE Select	ENSP00000332247.2:n.648+13C>T
NM_012463.3:c.648+13C>T	NP_036595.2:n.648+13C>T
ENST00000330342.7:c.648+13C>T	ENSP00000332247.2:n.648+13C>T
ENST00000504192.2:c.258+13C>T	ENSP00000443441.1:n.258+13C>T
ENST00000540368.5:n.858+13C>T
ENST00000540368.6:n.679+13C>T
ENST00000613625.4:c.648+13C>T	ENSP00000482236.1:n.648+13C>T
ENST00000613625.5:c.648+13C>T	ENSP00000482236.1:n.648+13C>T
ENST00000674794.1:c.88+13C>T
ENST00000675344.1:c.648+13C>T	ENSP00000501953.1:n.648+13C>T
XM_005253563.1:c.648+13C>T	XP_005253620.1:n.648+13C>T
XM_006719317.2:c.135+13C>T	XP_006719380.1:n.135+13C>T
XM_024448910.1:c.648+13C>T	XP_024304678.1:n.648+13C>T
XM_024448911.1:c.135+13C>T	XP_024304679.1:n.135+13C>T
XR_429088.1:n.811+13C>T