Canonical Allele Identifier: CA345424395

Gene: RYR2

Linked Data

• dbSNP Id: rs1660966573
• MyVariant Identifiers: chr1:g.237972291G>A (hg19) ; chr1:g.237808991G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808991G>A , CM000663.2:g.237808991G>A	GRCh38
NC_000001.10:g.237972291G>A , CM000663.1:g.237972291G>A	GRCh37
NC_000001.9:g.236038914G>A	NCBI36
NG_008799.2:g.771590G>A
NG_008799.3:g.771808G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5481G>A	ENSP00000499659.2:n.*5481G>A
ENST00000659194.3:c.14371G>A	ENSP00000499653.3:p.Glu4791Lys
ENST00000660292.2:c.14410G>A	ENSP00000499787.2:p.Glu4804Lys
ENST00000659194.2:c.6560G>A
ENST00000366574.7:c.14389G>A MANE Select	ENSP00000355533.2:p.Glu4797Lys
ENST00000360064.7:c.14338G>A	ENSP00000353174.7:p.Glu4780Lys
ENST00000366574.6:c.14389G>A	ENSP00000355533.2:p.Glu4797Lys
ENST00000608590.5:n.900G>A
NM_001035.2:c.14389G>A	NP_001026.2:p.Glu4797Lys
XM_006711802.2:c.14443G>A	XP_006711865.1:p.Glu4815Lys
XM_006711803.2:c.14440G>A	XP_006711866.1:p.Glu4814Lys
XM_006711804.2:c.14419G>A	XP_006711867.1:p.Glu4807Lys
XM_006711805.2:c.14413G>A	XP_006711868.1:p.Glu4805Lys
XM_006711806.2:c.14407G>A	XP_006711869.1:p.Glu4803Lys
XM_006711807.2:c.14383G>A	XP_006711870.1:p.Glu4795Lys
XM_006711808.2:c.14206G>A	XP_006711871.1:p.Glu4736Lys
XM_006711810.2:c.14350G>A	XP_006711873.1:p.Glu4784Lys
XM_006711802.3:c.14443G>A	XP_006711865.1:p.Glu4815Lys
XM_006711803.3:c.14440G>A	XP_006711866.1:p.Glu4814Lys
XM_006711804.3:c.14419G>A	XP_006711867.1:p.Glu4807Lys
XM_006711805.3:c.14413G>A	XP_006711868.1:p.Glu4805Lys
XM_006711806.3:c.14407G>A	XP_006711869.1:p.Glu4803Lys
XM_006711807.3:c.14383G>A	XP_006711870.1:p.Glu4795Lys
XM_006711808.3:c.14206G>A	XP_006711871.1:p.Glu4736Lys
XM_006711810.3:c.14350G>A	XP_006711873.1:p.Glu4784Lys
XM_017002028.1:c.14422G>A	XP_016857517.1:p.Glu4808Lys
NM_001035.3:c.14389G>A MANE Select	NP_001026.2:p.Glu4797Lys