Canonical Allele Identifier: CA2620869823

Gene: ATP2A2

Linked Data

• gnomAD v4: 12-110340773-GACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110340778_110340780del , CM000674.2:g.110340778_110340780del	GRCh38
NC_000012.11:g.110778583_110778585del , CM000674.1:g.110778583_110778585del	GRCh37
NC_000012.10:g.109262966_109262968del	NCBI36
NG_007097.2:g.64152_64154del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.1881_1883del MANE Select	ENSP00000440045.2:p.Asn627del
ENST00000308664.10:c.1881_1883del	ENSP00000311186.6:p.Asn627del
ENST00000377685.9:c.*1721_*1723del	ENSP00000366913.4:n.*1721_*1723del
ENST00000539276.6:c.1881_1883del	ENSP00000440045.2:p.Asn627del
ENST00000548169.2:c.1552_1554del
NM_001681.3:c.1881_1883del	NP_001672.1:p.Asn627del
NM_170665.3:c.1881_1883del	NP_733765.1:p.Asn627del
XM_005253888.1:c.1881_1883del	XP_005253945.1:p.Asn627del
XM_011538402.1:c.1881_1883del	XP_011536704.1:p.Asn627del
XM_011538403.1:c.1881_1883del	XP_011536705.1:p.Asn627del
XR_243009.1:n.1887_1889del
XM_005253888.3:c.1881_1883del	XP_005253945.1:p.Asn627del
XM_011538402.3:c.1881_1883del	XP_011536704.1:p.Asn627del
XR_002957329.1:n.1887_1889del
XR_243009.3:n.1887_1889del
NM_170665.4:c.1881_1883del MANE Select	NP_733765.1:p.Asn627del
NM_001681.4:c.1881_1883del	NP_001672.1:p.Asn627del