Canonical Allele Identifier: CA6784222
Community Standard Title: NM_170665.4(ATP2A2):c.2797G>A (p.Val933Met)
Gene: ATP2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110346056G>A , CM000674.2:g.110346056G>A GRCh38
NC_000012.11:g.110783861G>A , CM000674.1:g.110783861G>A GRCh37
NC_000012.10:g.109268244G>A NCBI36
NG_007097.2:g.69430G>A

Transcript Alleles

HGVS Amino-acid Change
NM_170665.4:c.2797G>A MANE Select NP_733765.1:p.Val933Met
ENST00000539276.7:c.2797G>A MANE Select ENSP00000440045.2:p.Val933Met
NM_001681.3:c.2797G>A NP_001672.1:p.Val933Met
NM_001681.4:c.2797G>A NP_001672.1:p.Val933Met
NM_170665.3:c.2797G>A NP_733765.1:p.Val933Met
ENST00000308664.10:c.2797G>A ENSP00000311186.6:p.Val933Met
ENST00000313432.5:n.620G>A
ENST00000377685.9:c.*2637G>A ENSP00000366913.4:n.*2637G>A
ENST00000539276.6:c.2797G>A ENSP00000440045.2:p.Val933Met
ENST00000548169.2:c.2468G>A
XM_005253888.1:c.2797G>A XP_005253945.1:p.Val933Met
XM_005253888.3:c.2797G>A XP_005253945.1:p.Val933Met
XM_011538402.1:c.2797G>A XP_011536704.1:p.Val933Met
XM_011538402.3:c.2797G>A XP_011536704.1:p.Val933Met
XR_002957329.1:n.2803G>A
XR_243009.1:n.2803G>A
XR_243009.3:n.2803G>A