Canonical Allele Identifier: CA683516179

Gene: ATP2A2

Linked Data

• dbSNP Id: rs1483617703
• gnomAD v3: 12-110345668-CTCACCCTT-C
• gnomAD v4: 12-110345668-CTCACCCTT-C
• MyVariant Identifiers: chr12:g.110783474_110783481del (hg19) ; chr12:g.110345669_110345676del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110345673_110345680del , CM000674.2:g.110345673_110345680del	GRCh38
NC_000012.11:g.110783478_110783485del , CM000674.1:g.110783478_110783485del	GRCh37
NC_000012.10:g.109267861_109267868del	NCBI36
NG_007097.2:g.69047_69054del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2741+291_2741+298del MANE Select	ENSP00000440045.2:n.2741+291_2741+298del
ENST00000308664.10:c.2741+291_2741+298del	ENSP00000311186.6:n.2741+291_2741+298del
ENST00000313432.5:n.237_244del
ENST00000377685.9:c.*2581+291_*2581+298del	ENSP00000366913.4:n.*2581+291_*2581+298del
ENST00000539276.6:c.2741+291_2741+298del	ENSP00000440045.2:n.2741+291_2741+298del
ENST00000548169.2:c.2412+291_2412+298del
NM_001681.3:c.2741+291_2741+298del	NP_001672.1:n.2741+291_2741+298del
NM_170665.3:c.2741+291_2741+298del	NP_733765.1:n.2741+291_2741+298del
XM_005253888.1:c.2741+291_2741+298del	XP_005253945.1:n.2741+291_2741+298del
XM_011538402.1:c.2741+291_2741+298del	XP_011536704.1:n.2741+291_2741+298del
XR_243009.1:n.2747+291_2747+298del
XM_005253888.3:c.2741+291_2741+298del	XP_005253945.1:n.2741+291_2741+298del
XM_011538402.3:c.2741+291_2741+298del	XP_011536704.1:n.2741+291_2741+298del
XR_002957329.1:n.2747+291_2747+298del
XR_243009.3:n.2747+291_2747+298del
NM_170665.4:c.2741+291_2741+298del MANE Select	NP_733765.1:n.2741+291_2741+298del
NM_001681.4:c.2741+291_2741+298del	NP_001672.1:n.2741+291_2741+298del