Canonical Allele Identifier: CA2620870208

Gene: ATP2A2

Linked Data

• gnomAD v4: 12-110343575-C-CATCGAACTGTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110343575_110343576insATCGAACTGTAA , CM000674.2:g.110343575_110343576insATCGAACTGTAA	GRCh38
NC_000012.11:g.110781380_110781381insATCGAACTGTAA , CM000674.1:g.110781380_110781381insATCGAACTGTAA	GRCh37
NC_000012.10:g.109265763_109265764insATCGAACTGTAA	NCBI36
NG_007097.2:g.66949_66950insATCGAACTGTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2521+141_2521+142insATCGAACTGTAA MANE Select	ENSP00000440045.2:n.2521+141_2521+142insATCGAACTGTAA
ENST00000308664.10:c.2521+141_2521+142insATCGAACTGTAA	ENSP00000311186.6:n.2521+141_2521+142insATCGAACTGTAA
ENST00000377685.9:c.*2361+141_*2361+142insATCGAACTGTAA	ENSP00000366913.4:n.*2361+141_*2361+142insATCGAACTGTAA
ENST00000539276.6:c.2521+141_2521+142insATCGAACTGTAA	ENSP00000440045.2:n.2521+141_2521+142insATCGAACTGTAA
ENST00000547792.1:n.179+141_179+142insATCGAACTGTAA
ENST00000548169.2:c.2192+141_2192+142insATCGAACTGTAA
NM_001681.3:c.2521+141_2521+142insATCGAACTGTAA	NP_001672.1:n.2521+141_2521+142insATCGAACTGTAA
NM_170665.3:c.2521+141_2521+142insATCGAACTGTAA	NP_733765.1:n.2521+141_2521+142insATCGAACTGTAA
XM_005253888.1:c.2521+141_2521+142insATCGAACTGTAA	XP_005253945.1:n.2521+141_2521+142insATCGAACTGTAA
XM_011538402.1:c.2521+141_2521+142insATCGAACTGTAA	XP_011536704.1:n.2521+141_2521+142insATCGAACTGTAA
XM_011538403.1:c.2521+141_2521+142insATCGAACTGTAA	XP_011536705.1:n.2521+141_2521+142insATCGAACTGTAA
XR_243009.1:n.2527+141_2527+142insATCGAACTGTAA
XM_005253888.3:c.2521+141_2521+142insATCGAACTGTAA	XP_005253945.1:n.2521+141_2521+142insATCGAACTGTAA
XM_011538402.3:c.2521+141_2521+142insATCGAACTGTAA	XP_011536704.1:n.2521+141_2521+142insATCGAACTGTAA
XR_002957329.1:n.2527+141_2527+142insATCGAACTGTAA
XR_243009.3:n.2527+141_2527+142insATCGAACTGTAA
NM_170665.4:c.2521+141_2521+142insATCGAACTGTAA MANE Select	NP_733765.1:n.2521+141_2521+142insATCGAACTGTAA
NM_001681.4:c.2521+141_2521+142insATCGAACTGTAA	NP_001672.1:n.2521+141_2521+142insATCGAACTGTAA