Canonical Allele Identifier: CA607317902

Gene: ATP2A2

Linked Data

• dbSNP Id: rs1299923934
• gnomAD v2: 12-110781237-G-GAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC
• MyVariant Identifiers: chr12:g.110781237_110781238insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC (hg19) ; chr12:g.110343432_110343433insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110343432_110343433insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC , CM000674.2:g.110343432_110343433insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC	GRCh38
NC_000012.11:g.110781237_110781238insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC , CM000674.1:g.110781237_110781238insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC	GRCh37
NC_000012.10:g.109265620_109265621insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC	NCBI36
NG_007097.2:g.66806_66807insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2519_2520insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC MANE Select	ENSP00000440045.2:p.Cys841ArgfsTer3
ENST00000308664.10:c.2519_2520insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC	ENSP00000311186.6:p.Cys841ArgfsTer3
ENST00000377685.9:c.*2359_*2360insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC	ENSP00000366913.4:n.*2359_*2360insAAGATCCTAGAGTCGTTTAAAACCCAG...
ENST00000539276.6:c.2519_2520insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC	ENSP00000440045.2:p.Cys841ArgfsTer3
ENST00000547792.1:n.177_178insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC
ENST00000548169.2:c.2190_2191insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC
NM_001681.3:c.2519_2520insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC	NP_001672.1:p.Cys841ArgfsTer3
NM_170665.3:c.2519_2520insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC	NP_733765.1:p.Cys841ArgfsTer3
XM_005253888.1:c.2519_2520insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC	XP_005253945.1:p.Cys841ArgfsTer3
XM_011538402.1:c.2519_2520insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC	XP_011536704.1:p.Cys841ArgfsTer3
XM_011538403.1:c.2519_2520insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC	XP_011536705.1:p.Tyr841ArgfsTer3
XR_243009.1:n.2525_2526insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC
XM_005253888.3:c.2519_2520insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC	XP_005253945.1:p.Cys841ArgfsTer3
XM_011538402.3:c.2519_2520insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC	XP_011536704.1:p.Cys841ArgfsTer3
XR_002957329.1:n.2525_2526insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC
XR_243009.3:n.2525_2526insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC
NM_170665.4:c.2519_2520insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC MANE Select	NP_733765.1:p.Cys841ArgfsTer3
NM_001681.4:c.2519_2520insAAGATCCTAGAGTCGTTTAAAACCCAGAAGGGCCTTC	NP_001672.1:p.Cys841ArgfsTer3