Canonical Allele Identifier: CA10640180
Community Standard Title: NM_170665.4(ATP2A2):c.*4047A>G
Gene: ATP2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110350517A>G , CM000674.2:g.110350517A>G GRCh38
NC_000012.11:g.110788322A>G , CM000674.1:g.110788322A>G GRCh37
NC_000012.10:g.109272705A>G NCBI36
NG_007097.2:g.73891A>G

Transcript Alleles

HGVS Amino-acid Change
NM_170665.4:c.*4047A>G MANE Select NP_733765.1:n.*4047A>G
ENST00000539276.7:c.*4047A>G MANE Select ENSP00000440045.2:n.*4047A>G
NM_001681.3:c.*212A>G NP_001672.1:n.*212A>G
NM_001681.4:c.*212A>G NP_001672.1:n.*212A>G
NM_170665.3:c.*4047A>G NP_733765.1:n.*4047A>G
ENST00000308664.10:c.*212A>G ENSP00000311186.6:n.*212A>G
ENST00000313432.5:n.4999A>G
ENST00000377685.9:c.*4516A>G ENSP00000366913.4:n.*4516A>G
XM_005253888.1:c.*267A>G XP_005253945.1:n.*267A>G
XM_005253888.3:c.*267A>G XP_005253945.1:n.*267A>G
XR_002957329.1:n.4682A>G
XR_243009.1:n.3611A>G
XR_243009.3:n.3611A>G