Canonical Allele Identifier: CA011052

Gene: RYR2

Linked Data

• ClinVar Variation Id: 201406
• ClinVar RCV Id: RCV000182896
• dbSNP Id: rs794728833
• MyVariant Identifiers: chr1:g.237580425dupT (hg19) ; chr1:g.237417125dupT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237417125dup , CM000663.2:g.237417125dup	GRCh38
NC_000001.10:g.237580425dup , CM000663.1:g.237580425dup	GRCh37
NC_000001.9:g.235647048dup	NCBI36
NG_008799.2:g.379724dup
NG_008799.3:g.379942dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.848+2dup	ENSP00000499659.2:n.848+2dup
ENST00000659194.3:c.848+2dup	ENSP00000499653.3:n.848+2dup
ENST00000660292.2:c.848+2dup	ENSP00000499787.2:n.848+2dup
ENST00000366574.7:c.848+2dup MANE Select	ENSP00000355533.2:n.848+2dup
ENST00000360064.7:c.800+2dup	ENSP00000353174.7:n.800+2dup
ENST00000366574.6:c.848+2dup	ENSP00000355533.2:n.848+2dup
NM_001035.2:c.848+2dup	NP_001026.2:n.848+2dup
XM_006711802.2:c.848+2dup	XP_006711865.1:n.848+2dup
XM_006711803.2:c.848+2dup	XP_006711866.1:n.848+2dup
XM_006711804.2:c.848+2dup	XP_006711867.1:n.848+2dup
XM_006711805.2:c.848+2dup	XP_006711868.1:n.848+2dup
XM_006711806.2:c.848+2dup	XP_006711869.1:n.848+2dup
XM_006711807.2:c.848+2dup	XP_006711870.1:n.848+2dup
XM_006711808.2:c.848+2dup	XP_006711871.1:n.848+2dup
XM_006711809.2:c.848+2dup	XP_006711872.1:n.848+2dup
XM_006711810.2:c.848+2dup	XP_006711873.1:n.848+2dup
XR_949152.1:n.1129+2dup
XM_006711802.3:c.848+2dup	XP_006711865.1:n.848+2dup
XM_006711803.3:c.848+2dup	XP_006711866.1:n.848+2dup
XM_006711804.3:c.848+2dup	XP_006711867.1:n.848+2dup
XM_006711805.3:c.848+2dup	XP_006711868.1:n.848+2dup
XM_006711806.3:c.848+2dup	XP_006711869.1:n.848+2dup
XM_006711807.3:c.848+2dup	XP_006711870.1:n.848+2dup
XM_006711808.3:c.848+2dup	XP_006711871.1:n.848+2dup
XM_006711810.3:c.848+2dup	XP_006711873.1:n.848+2dup
XM_017002028.1:c.827+2dup	XP_016857517.1:n.827+2dup
XR_002957299.1:n.1162+2dup
XR_949152.2:n.1162+2dup
NM_001035.3:c.848+2dup MANE Select	NP_001026.2:n.848+2dup