Canonical Allele Identifier: CA6783927

Gene: ATP2A2

Linked Data

• dbSNP Id: rs764700963
• ExAC: 12:110777278 ATTGTT / A
• gnomAD v2: 12-110777278-ATTGTT-A
• gnomAD v3: 12-110339473-ATTGTT-A
• gnomAD v4: 12-110339473-ATTGTT-A
• MyVariant Identifiers: chr12:g.110777279_110777283del (hg19) ; chr12:g.110339475_110339479del (hg38) ; chr12:g.110339474_110339478del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110339475_110339479del , CM000674.2:g.110339475_110339479del	GRCh38
NC_000012.11:g.110777280_110777284del , CM000674.1:g.110777280_110777284del	GRCh37
NC_000012.10:g.109261663_109261667del	NCBI36
NG_007097.2:g.62849_62853del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.1543-28_1543-24del MANE Select	ENSP00000440045.2:n.1543-28_1543-24del
ENST00000308664.10:c.1543-28_1543-24del	ENSP00000311186.6:n.1543-28_1543-24del
ENST00000377685.9:c.*1383-28_*1383-24del	ENSP00000366913.4:n.*1383-28_*1383-24del
ENST00000539276.6:c.1543-28_1543-24del	ENSP00000440045.2:n.1543-28_1543-24del
ENST00000548169.2:c.1214-28_1214-24del
NM_001681.3:c.1543-28_1543-24del	NP_001672.1:n.1543-28_1543-24del
NM_170665.3:c.1543-28_1543-24del	NP_733765.1:n.1543-28_1543-24del
XM_005253888.1:c.1543-28_1543-24del	XP_005253945.1:n.1543-28_1543-24del
XM_011538402.1:c.1543-28_1543-24del	XP_011536704.1:n.1543-28_1543-24del
XM_011538403.1:c.1543-28_1543-24del	XP_011536705.1:n.1543-28_1543-24del
XR_243009.1:n.1549-28_1549-24del
XM_005253888.3:c.1543-28_1543-24del	XP_005253945.1:n.1543-28_1543-24del
XM_011538402.3:c.1543-28_1543-24del	XP_011536704.1:n.1543-28_1543-24del
XR_002957329.1:n.1549-28_1549-24del
XR_243009.3:n.1549-28_1549-24del
NM_170665.4:c.1543-28_1543-24del MANE Select	NP_733765.1:n.1543-28_1543-24del
NM_001681.4:c.1543-28_1543-24del	NP_001672.1:n.1543-28_1543-24del