Canonical Allele Identifier: CA733264532

Gene: RYR2

Linked Data

• dbSNP Id: rs1452824391
• MyVariant Identifiers: chr1:g.237540770_237540771insA (hg19) ; chr1:g.237377470_237377471insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237377471dup , CM000663.2:g.237377471dup	GRCh38
NC_000001.10:g.237540771dup , CM000663.1:g.237540771dup	GRCh37
NC_000001.9:g.235607394dup	NCBI36
NG_008799.2:g.340070dup
NG_008799.3:g.340288dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.576+36dup	ENSP00000499659.2:n.576+36dup
ENST00000659194.3:c.576+36dup	ENSP00000499653.3:n.576+36dup
ENST00000660292.2:c.576+36dup	ENSP00000499787.2:n.576+36dup
ENST00000366574.7:c.576+36dup MANE Select	ENSP00000355533.2:n.576+36dup
ENST00000360064.7:c.528+36dup	ENSP00000353174.7:n.528+36dup
ENST00000366574.6:c.576+36dup	ENSP00000355533.2:n.576+36dup
NM_001035.2:c.576+36dup	NP_001026.2:n.576+36dup
XM_006711802.2:c.576+36dup	XP_006711865.1:n.576+36dup
XM_006711803.2:c.576+36dup	XP_006711866.1:n.576+36dup
XM_006711804.2:c.576+36dup	XP_006711867.1:n.576+36dup
XM_006711805.2:c.576+36dup	XP_006711868.1:n.576+36dup
XM_006711806.2:c.576+36dup	XP_006711869.1:n.576+36dup
XM_006711807.2:c.576+36dup	XP_006711870.1:n.576+36dup
XM_006711808.2:c.576+36dup	XP_006711871.1:n.576+36dup
XM_006711809.2:c.576+36dup	XP_006711872.1:n.576+36dup
XM_006711810.2:c.576+36dup	XP_006711873.1:n.576+36dup
XR_949152.1:n.857+36dup
XM_006711802.3:c.576+36dup	XP_006711865.1:n.576+36dup
XM_006711803.3:c.576+36dup	XP_006711866.1:n.576+36dup
XM_006711804.3:c.576+36dup	XP_006711867.1:n.576+36dup
XM_006711805.3:c.576+36dup	XP_006711868.1:n.576+36dup
XM_006711806.3:c.576+36dup	XP_006711869.1:n.576+36dup
XM_006711807.3:c.576+36dup	XP_006711870.1:n.576+36dup
XM_006711808.3:c.576+36dup	XP_006711871.1:n.576+36dup
XM_006711810.3:c.576+36dup	XP_006711873.1:n.576+36dup
XM_017002028.1:c.555+36dup	XP_016857517.1:n.555+36dup
XR_002957299.1:n.890+36dup
XR_949152.2:n.890+36dup
NM_001035.3:c.576+36dup MANE Select	NP_001026.2:n.576+36dup