Canonical Allele Identifier: CA345413696

Gene: RYR2

Linked Data

• ClinVar Variation Id: 3069678
• ClinVar RCV Id: RCV004008222
• MyVariant Identifiers: chr1:g.237947602T>C (hg19) ; chr1:g.237784302T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784302T>C , CM000663.2:g.237784302T>C	GRCh38
NC_000001.10:g.237947602T>C , CM000663.1:g.237947602T>C	GRCh37
NC_000001.9:g.236014225T>C	NCBI36
NG_008799.2:g.746901T>C
NG_008799.3:g.747119T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3682T>C	ENSP00000499659.2:n.*3682T>C
ENST00000659194.3:c.12578T>C	ENSP00000499653.3:p.Ile4193Thr
ENST00000660292.2:c.12611T>C	ENSP00000499787.2:p.Ile4204Thr
ENST00000659194.2:c.4767T>C
ENST00000366574.7:c.12590T>C MANE Select	ENSP00000355533.2:p.Ile4197Thr
ENST00000659194.1:c.4767T>C
ENST00000660292.1:c.2643T>C
ENST00000360064.7:c.12542T>C	ENSP00000353174.7:p.Ile4181Thr
ENST00000366574.6:c.12590T>C	ENSP00000355533.2:p.Ile4197Thr
ENST00000609119.1:n.3785T>C
NM_001035.2:c.12590T>C	NP_001026.2:p.Ile4197Thr
XM_006711802.2:c.12644T>C	XP_006711865.1:p.Ile4215Thr
XM_006711803.2:c.12641T>C	XP_006711866.1:p.Ile4214Thr
XM_006711804.2:c.12620T>C	XP_006711867.1:p.Ile4207Thr
XM_006711805.2:c.12614T>C	XP_006711868.1:p.Ile4205Thr
XM_006711806.2:c.12608T>C	XP_006711869.1:p.Ile4203Thr
XM_006711807.2:c.12584T>C	XP_006711870.1:p.Ile4195Thr
XM_006711808.2:c.12407T>C	XP_006711871.1:p.Ile4136Thr
XM_006711810.2:c.12551T>C	XP_006711873.1:p.Ile4184Thr
XM_006711802.3:c.12644T>C	XP_006711865.1:p.Ile4215Thr
XM_006711803.3:c.12641T>C	XP_006711866.1:p.Ile4214Thr
XM_006711804.3:c.12620T>C	XP_006711867.1:p.Ile4207Thr
XM_006711805.3:c.12614T>C	XP_006711868.1:p.Ile4205Thr
XM_006711806.3:c.12608T>C	XP_006711869.1:p.Ile4203Thr
XM_006711807.3:c.12584T>C	XP_006711870.1:p.Ile4195Thr
XM_006711808.3:c.12407T>C	XP_006711871.1:p.Ile4136Thr
XM_006711810.3:c.12551T>C	XP_006711873.1:p.Ile4184Thr
XM_017002028.1:c.12623T>C	XP_016857517.1:p.Ile4208Thr
NM_001035.3:c.12590T>C MANE Select	NP_001026.2:p.Ile4197Thr