Canonical Allele Identifier: CA386914457
Community Standard Title: NM_170665.4(ATP2A2):c.220-1G>A
Gene: ATP2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110292019G>A , CM000674.2:g.110292019G>A GRCh38
NC_000012.11:g.110729824G>A , CM000674.1:g.110729824G>A GRCh37
NC_000012.10:g.109214207G>A NCBI36
NG_007097.2:g.15393G>A

Transcript Alleles

HGVS Amino-acid Change
NM_170665.4:c.220-1G>A MANE Select NP_733765.1:n.220-1G>A
ENST00000539276.7:c.220-1G>A MANE Select ENSP00000440045.2:n.220-1G>A
NM_001681.3:c.220-1G>A NP_001672.1:n.220-1G>A
NM_001681.4:c.220-1G>A NP_001672.1:n.220-1G>A
NM_170665.3:c.220-1G>A NP_733765.1:n.220-1G>A
ENST00000308664.10:c.220-1G>A ENSP00000311186.6:n.220-1G>A
ENST00000377685.9:c.*60-1G>A ENSP00000366913.4:n.*60-1G>A
ENST00000539276.6:c.220-1G>A ENSP00000440045.2:n.220-1G>A
ENST00000552636.1:c.-82-1G>A ENSP00000447406.1:n.-82-1G>A
ENST00000552636.2:c.-156-1G>A ENSP00000447406.2:n.-156-1G>A
XM_005253888.1:c.220-1G>A XP_005253945.1:n.220-1G>A
XM_005253888.3:c.220-1G>A XP_005253945.1:n.220-1G>A
XM_011538402.1:c.220-1G>A XP_011536704.1:n.220-1G>A
XM_011538402.3:c.220-1G>A XP_011536704.1:n.220-1G>A
XM_011538403.1:c.220-1G>A XP_011536705.1:n.220-1G>A
XR_002957329.1:n.226-1G>A
XR_243009.1:n.226-1G>A
XR_243009.3:n.226-1G>A