Canonical Allele Identifier: CA285478647
Gene: ATP2C2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.84389428G>T , CM000678.2:g.84389428G>T GRCh38
NC_000016.9:g.84423034G>T , CM000678.1:g.84423034G>T GRCh37
NC_000016.8:g.82980535G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262429.9:c.100-9071G>T MANE Select ENSP00000262429.4:n.100-9071G>T
ENST00000262429.8:c.100-9071G>T ENSP00000262429.4:n.100-9071G>T
ENST00000416219.6:c.100-9071G>T ENSP00000397925.2:n.100-9071G>T
NM_001286527.2:c.100-9071G>T NP_001273456.2:n.100-9071G>T
NM_014861.3:c.100-9071G>T NP_055676.3:n.100-9071G>T
XR_001752045.1:n.193-9071G>T
NM_001286527.3:c.100-9071G>T NP_001273456.2:n.100-9071G>T
NM_014861.4:c.100-9071G>T MANE Select NP_055676.3:n.100-9071G>T