Canonical Allele Identifier: CA6784126

Gene: ATP2A2

Linked Data

• dbSNP Id: rs779219864
• ExAC: 12:110781279 ATGTT / A
• gnomAD v2: 12-110781279-ATGTT-A
• gnomAD v4: 12-110343474-ATGTT-A
• MyVariant Identifiers: chr12:g.110781280_110781283del (hg19) ; chr12:g.110343475_110343478del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110343478_110343481del , CM000674.2:g.110343478_110343481del	GRCh38
NC_000012.11:g.110781283_110781286del , CM000674.1:g.110781283_110781286del	GRCh37
NC_000012.10:g.109265666_109265669del	NCBI36
NG_007097.2:g.66852_66855del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2521+44_2521+47del MANE Select	ENSP00000440045.2:n.2521+44_2521+47del
ENST00000308664.10:c.2521+44_2521+47del	ENSP00000311186.6:n.2521+44_2521+47del
ENST00000377685.9:c.*2361+44_*2361+47del	ENSP00000366913.4:n.*2361+44_*2361+47del
ENST00000539276.6:c.2521+44_2521+47del	ENSP00000440045.2:n.2521+44_2521+47del
ENST00000547792.1:n.179+44_179+47del
ENST00000548169.2:c.2192+44_2192+47del
NM_001681.3:c.2521+44_2521+47del	NP_001672.1:n.2521+44_2521+47del
NM_170665.3:c.2521+44_2521+47del	NP_733765.1:n.2521+44_2521+47del
XM_005253888.1:c.2521+44_2521+47del	XP_005253945.1:n.2521+44_2521+47del
XM_011538402.1:c.2521+44_2521+47del	XP_011536704.1:n.2521+44_2521+47del
XM_011538403.1:c.2521+44_2521+47del	XP_011536705.1:n.2521+44_2521+47del
XR_243009.1:n.2527+44_2527+47del
XM_005253888.3:c.2521+44_2521+47del	XP_005253945.1:n.2521+44_2521+47del
XM_011538402.3:c.2521+44_2521+47del	XP_011536704.1:n.2521+44_2521+47del
XR_002957329.1:n.2527+44_2527+47del
XR_243009.3:n.2527+44_2527+47del
NM_170665.4:c.2521+44_2521+47del MANE Select	NP_733765.1:n.2521+44_2521+47del
NM_001681.4:c.2521+44_2521+47del	NP_001672.1:n.2521+44_2521+47del