Canonical Allele Identifier: CA345413320

Gene: RYR2

Linked Data

• ClinVar Variation Id: 1321097
• ClinVar RCV Id: RCV001777076
• dbSNP Id: rs2149353895
• MyVariant Identifiers: chr1:g.237947466A>C (hg19) ; chr1:g.237784166A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784166A>C , CM000663.2:g.237784166A>C	GRCh38
NC_000001.10:g.237947466A>C , CM000663.1:g.237947466A>C	GRCh37
NC_000001.9:g.236014089A>C	NCBI36
NG_008799.2:g.746765A>C
NG_008799.3:g.746983A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3546A>C	ENSP00000499659.2:n.*3546A>C
ENST00000659194.3:c.12442A>C	ENSP00000499653.3:p.Ile4148Leu
ENST00000660292.2:c.12475A>C	ENSP00000499787.2:p.Ile4159Leu
ENST00000659194.2:c.4631A>C
ENST00000366574.7:c.12454A>C MANE Select	ENSP00000355533.2:p.Ile4152Leu
ENST00000659194.1:c.4631A>C
ENST00000660292.1:c.2507A>C
ENST00000360064.7:c.12406A>C	ENSP00000353174.7:p.Ile4136Leu
ENST00000366574.6:c.12454A>C	ENSP00000355533.2:p.Ile4152Leu
ENST00000609119.1:n.3649A>C
NM_001035.2:c.12454A>C	NP_001026.2:p.Ile4152Leu
XM_006711802.2:c.12508A>C	XP_006711865.1:p.Ile4170Leu
XM_006711803.2:c.12505A>C	XP_006711866.1:p.Ile4169Leu
XM_006711804.2:c.12484A>C	XP_006711867.1:p.Ile4162Leu
XM_006711805.2:c.12478A>C	XP_006711868.1:p.Ile4160Leu
XM_006711806.2:c.12472A>C	XP_006711869.1:p.Ile4158Leu
XM_006711807.2:c.12448A>C	XP_006711870.1:p.Ile4150Leu
XM_006711808.2:c.12271A>C	XP_006711871.1:p.Ile4091Leu
XM_006711810.2:c.12415A>C	XP_006711873.1:p.Ile4139Leu
XM_006711802.3:c.12508A>C	XP_006711865.1:p.Ile4170Leu
XM_006711803.3:c.12505A>C	XP_006711866.1:p.Ile4169Leu
XM_006711804.3:c.12484A>C	XP_006711867.1:p.Ile4162Leu
XM_006711805.3:c.12478A>C	XP_006711868.1:p.Ile4160Leu
XM_006711806.3:c.12472A>C	XP_006711869.1:p.Ile4158Leu
XM_006711807.3:c.12448A>C	XP_006711870.1:p.Ile4150Leu
XM_006711808.3:c.12271A>C	XP_006711871.1:p.Ile4091Leu
XM_006711810.3:c.12415A>C	XP_006711873.1:p.Ile4139Leu
XM_017002028.1:c.12487A>C	XP_016857517.1:p.Ile4163Leu
NM_001035.3:c.12454A>C MANE Select	NP_001026.2:p.Ile4152Leu