Canonical Allele Identifier: CA2062810202
Gene: ATP2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110345445_110345451delinsTGTGTAG , CM000674.2:g.110345445_110345451delinsTGTGTAG GRCh38
NC_000012.11:g.110783250_110783256delinsTGTGTAG , CM000674.1:g.110783250_110783256delinsTGTGTAG GRCh37
NC_000012.10:g.109267633_109267639delinsTGTGTAG NCBI36
NG_007097.2:g.68819_68825delinsTGTGTAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000539276.7:c.2741+63_2741+69delinsTGTGTAG MANE Select ENSP00000440045.2:n.2741+63_2741+69delinsTGTGTAG
ENST00000308664.10:c.2741+63_2741+69delinsTGTGTAG ENSP00000311186.6:n.2741+63_2741+69delinsTGTGTAG
ENST00000313432.5:n.9_15delinsTGTGTAG
ENST00000377685.9:c.*2581+63_*2581+69delinsTGTGTAG ENSP00000366913.4:n.*2581+63_*2581+69delinsTGTGTAG
ENST00000539276.6:c.2741+63_2741+69delinsTGTGTAG ENSP00000440045.2:n.2741+63_2741+69delinsTGTGTAG
ENST00000548169.2:c.2412+63_2412+69delinsTGTGTAG
NM_001681.3:c.2741+63_2741+69delinsTGTGTAG NP_001672.1:n.2741+63_2741+69delinsTGTGTAG
NM_170665.3:c.2741+63_2741+69delinsTGTGTAG NP_733765.1:n.2741+63_2741+69delinsTGTGTAG
XM_005253888.1:c.2741+63_2741+69delinsTGTGTAG XP_005253945.1:n.2741+63_2741+69delinsTGTGTAG
XM_011538402.1:c.2741+63_2741+69delinsTGTGTAG XP_011536704.1:n.2741+63_2741+69delinsTGTGTAG
XR_243009.1:n.2747+63_2747+69delinsTGTGTAG
XM_005253888.3:c.2741+63_2741+69delinsTGTGTAG XP_005253945.1:n.2741+63_2741+69delinsTGTGTAG
XM_011538402.3:c.2741+63_2741+69delinsTGTGTAG XP_011536704.1:n.2741+63_2741+69delinsTGTGTAG
XR_002957329.1:n.2747+63_2747+69delinsTGTGTAG
XR_243009.3:n.2747+63_2747+69delinsTGTGTAG
NM_170665.4:c.2741+63_2741+69delinsTGTGTAG MANE Select NP_733765.1:n.2741+63_2741+69delinsTGTGTAG
NM_001681.4:c.2741+63_2741+69delinsTGTGTAG NP_001672.1:n.2741+63_2741+69delinsTGTGTAG