Canonical Allele Identifier: CA2797816160
Gene: ATP6V0A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123744535_123744541dup , CM000674.2:g.123744535_123744541dup GRCh38
NC_000012.11:g.124229082_124229088dup , CM000674.1:g.124229082_124229088dup GRCh37
NC_000012.10:g.122795035_122795041dup NCBI36
NG_012743.1:g.37218_37224dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000330342.8:c.1327-62_1327-56dup MANE Select ENSP00000332247.2:n.1327-62_1327-56dup
ENST00000540368.6:n.1358-62_1358-56dup
ENST00000674794.1:c.1415-62_1415-56dup
ENST00000675260.1:n.602-62_602-56dup
ENST00000675344.1:c.*348-62_*348-56dup ENSP00000501953.1:n.*348-62_*348-56dup
ENST00000330342.7:c.1327-62_1327-56dup ENSP00000332247.2:n.1327-62_1327-56dup
ENST00000504192.2:c.937-62_937-56dup ENSP00000443441.1:n.937-62_937-56dup
ENST00000536426.1:n.344-62_344-56dup
ENST00000545059.5:n.3963-62_3963-56dup
NM_012463.3:c.1327-62_1327-56dup NP_036595.2:n.1327-62_1327-56dup
XM_005253563.1:c.1327-62_1327-56dup XP_005253620.1:n.1327-62_1327-56dup
XM_006719317.2:c.814-62_814-56dup XP_006719380.1:n.814-62_814-56dup
XM_006719318.2:c.505-62_505-56dup XP_006719381.1:n.505-62_505-56dup
XR_429088.1:n.1490-62_1490-56dup
XM_024448910.1:c.1327-62_1327-56dup XP_024304678.1:n.1327-62_1327-56dup
XM_024448911.1:c.814-62_814-56dup XP_024304679.1:n.814-62_814-56dup
XM_024448912.1:c.505-62_505-56dup XP_024304680.1:n.505-62_505-56dup
NM_012463.4:c.1327-62_1327-56dup MANE Select NP_036595.2:n.1327-62_1327-56dup