Canonical Allele Identifier: CA607317907

Gene: ATP2A2

Linked Data

• dbSNP Id: rs1592865148
• gnomAD v2: 12-110781259-ATT-A
• gnomAD v4: 12-110343454-ATT-A
• MyVariant Identifiers: chr12:g.110781260_110781261del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110343455_110343456del , CM000674.2:g.110343455_110343456del	GRCh38
NC_000012.11:g.110781260_110781261del , CM000674.1:g.110781260_110781261del	GRCh37
NC_000012.10:g.109265643_109265644del	NCBI36
NG_007097.2:g.66829_66830del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2521+21_2521+22del MANE Select	ENSP00000440045.2:n.2521+21_2521+22del
ENST00000308664.10:c.2521+21_2521+22del	ENSP00000311186.6:n.2521+21_2521+22del
ENST00000377685.9:c.*2361+21_*2361+22del	ENSP00000366913.4:n.*2361+21_*2361+22del
ENST00000539276.6:c.2521+21_2521+22del	ENSP00000440045.2:n.2521+21_2521+22del
ENST00000547792.1:n.179+21_179+22del
ENST00000548169.2:c.2192+21_2192+22del
NM_001681.3:c.2521+21_2521+22del	NP_001672.1:n.2521+21_2521+22del
NM_170665.3:c.2521+21_2521+22del	NP_733765.1:n.2521+21_2521+22del
XM_005253888.1:c.2521+21_2521+22del	XP_005253945.1:n.2521+21_2521+22del
XM_011538402.1:c.2521+21_2521+22del	XP_011536704.1:n.2521+21_2521+22del
XM_011538403.1:c.2521+21_2521+22del	XP_011536705.1:n.2521+21_2521+22del
XR_243009.1:n.2527+21_2527+22del
XM_005253888.3:c.2521+21_2521+22del	XP_005253945.1:n.2521+21_2521+22del
XM_011538402.3:c.2521+21_2521+22del	XP_011536704.1:n.2521+21_2521+22del
XR_002957329.1:n.2527+21_2527+22del
XR_243009.3:n.2527+21_2527+22del
NM_170665.4:c.2521+21_2521+22del MANE Select	NP_733765.1:n.2521+21_2521+22del
NM_001681.4:c.2521+21_2521+22del	NP_001672.1:n.2521+21_2521+22del