Canonical Allele Identifier: CA066379

Gene: RYR2

Linked Data

• COSMIC: COSM6061862 ; COSM6061863
• MyVariant Identifiers: chr1:g.237947327C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784027C>A , CM000663.2:g.237784027C>A	GRCh38
NC_000001.10:g.237947327C>A , CM000663.1:g.237947327C>A	GRCh37
NC_000001.9:g.236013950C>A	NCBI36
NG_008799.2:g.746626C>A
NG_008799.3:g.746844C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3407C>A	ENSP00000499659.2:n.*3407C>A
ENST00000659194.3:c.12303C>A	ENSP00000499653.3:p.Leu4101=
ENST00000660292.2:c.12336C>A	ENSP00000499787.2:p.Leu4112=
ENST00000659194.2:c.4492C>A
ENST00000366574.7:c.12315C>A MANE Select	ENSP00000355533.2:p.Leu4105=
ENST00000659194.1:c.4492C>A
ENST00000660292.1:c.2368C>A
ENST00000360064.7:c.12267C>A	ENSP00000353174.7:p.Leu4089=
ENST00000366574.6:c.12315C>A	ENSP00000355533.2:p.Leu4105=
ENST00000609119.1:n.3510C>A
NM_001035.2:c.12315C>A	NP_001026.2:p.Leu4105=
XM_006711802.2:c.12369C>A	XP_006711865.1:p.Leu4123=
XM_006711803.2:c.12366C>A	XP_006711866.1:p.Leu4122=
XM_006711804.2:c.12345C>A	XP_006711867.1:p.Leu4115=
XM_006711805.2:c.12339C>A	XP_006711868.1:p.Leu4113=
XM_006711806.2:c.12333C>A	XP_006711869.1:p.Leu4111=
XM_006711807.2:c.12309C>A	XP_006711870.1:p.Leu4103=
XM_006711808.2:c.12132C>A	XP_006711871.1:p.Leu4044=
XM_006711810.2:c.12276C>A	XP_006711873.1:p.Leu4092=
XM_006711802.3:c.12369C>A	XP_006711865.1:p.Leu4123=
XM_006711803.3:c.12366C>A	XP_006711866.1:p.Leu4122=
XM_006711804.3:c.12345C>A	XP_006711867.1:p.Leu4115=
XM_006711805.3:c.12339C>A	XP_006711868.1:p.Leu4113=
XM_006711806.3:c.12333C>A	XP_006711869.1:p.Leu4111=
XM_006711807.3:c.12309C>A	XP_006711870.1:p.Leu4103=
XM_006711808.3:c.12132C>A	XP_006711871.1:p.Leu4044=
XM_006711810.3:c.12276C>A	XP_006711873.1:p.Leu4092=
XM_017002028.1:c.12348C>A	XP_016857517.1:p.Leu4116=
NM_001035.3:c.12315C>A MANE Select	NP_001026.2:p.Leu4105=