Canonical Allele Identifier: CA2062803786

Gene: ATP2A2

Linked Data

• dbSNP Id: rs1879178465
• gnomAD v4: 12-110339809-C-CATATGTTTGCCAAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110339809_110339810insATATGTTTGCCAAGT , CM000674.2:g.110339809_110339810insATATGTTTGCCAAGT	GRCh38
NC_000012.11:g.110777614_110777615insATATGTTTGCCAAGT , CM000674.1:g.110777614_110777615insATATGTTTGCCAAGT	GRCh37
NC_000012.10:g.109261997_109261998insATATGTTTGCCAAGT	NCBI36
NG_007097.2:g.63183_63184insATATGTTTGCCAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.1761+88_1761+89insATATGTTTGCCAAGT MANE Select	ENSP00000440045.2:n.1761+88_1761+89insATATGTTTGCCAAGT
ENST00000308664.10:c.1761+88_1761+89insATATGTTTGCCAAGT	ENSP00000311186.6:n.1761+88_1761+89insATATGTTTGCCAAGT
ENST00000377685.9:c.*1601+88_*1601+89insATATGTTTGCCAAGT	ENSP00000366913.4:n.*1601+88_*1601+89insATATGTTTGCCAAGT
ENST00000539276.6:c.1761+88_1761+89insATATGTTTGCCAAGT	ENSP00000440045.2:n.1761+88_1761+89insATATGTTTGCCAAGT
ENST00000548169.2:c.1432+88_1432+89insATATGTTTGCCAAGT
NM_001681.3:c.1761+88_1761+89insATATGTTTGCCAAGT	NP_001672.1:n.1761+88_1761+89insATATGTTTGCCAAGT
NM_170665.3:c.1761+88_1761+89insATATGTTTGCCAAGT	NP_733765.1:n.1761+88_1761+89insATATGTTTGCCAAGT
XM_005253888.1:c.1761+88_1761+89insATATGTTTGCCAAGT	XP_005253945.1:n.1761+88_1761+89insATATGTTTGCCAAGT
XM_011538402.1:c.1761+88_1761+89insATATGTTTGCCAAGT	XP_011536704.1:n.1761+88_1761+89insATATGTTTGCCAAGT
XM_011538403.1:c.1761+88_1761+89insATATGTTTGCCAAGT	XP_011536705.1:n.1761+88_1761+89insATATGTTTGCCAAGT
XR_243009.1:n.1767+88_1767+89insATATGTTTGCCAAGT
XM_005253888.3:c.1761+88_1761+89insATATGTTTGCCAAGT	XP_005253945.1:n.1761+88_1761+89insATATGTTTGCCAAGT
XM_011538402.3:c.1761+88_1761+89insATATGTTTGCCAAGT	XP_011536704.1:n.1761+88_1761+89insATATGTTTGCCAAGT
XR_002957329.1:n.1767+88_1767+89insATATGTTTGCCAAGT
XR_243009.3:n.1767+88_1767+89insATATGTTTGCCAAGT
NM_170665.4:c.1761+88_1761+89insATATGTTTGCCAAGT MANE Select	NP_733765.1:n.1761+88_1761+89insATATGTTTGCCAAGT
NM_001681.4:c.1761+88_1761+89insATATGTTTGCCAAGT	NP_001672.1:n.1761+88_1761+89insATATGTTTGCCAAGT