Canonical Allele Identifier: CA345413212

Gene: RYR2

Linked Data

• ClinVar Variation Id: 1190199
• ClinVar RCV Id: RCV001550812
• dbSNP Id: rs761834154
• MyVariant Identifiers: chr1:g.237947436G>C (hg19) ; chr1:g.237784136G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784136G>C , CM000663.2:g.237784136G>C	GRCh38
NC_000001.10:g.237947436G>C , CM000663.1:g.237947436G>C	GRCh37
NC_000001.9:g.236014059G>C	NCBI36
NG_008799.2:g.746735G>C
NG_008799.3:g.746953G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3516G>C	ENSP00000499659.2:n.*3516G>C
ENST00000659194.3:c.12412G>C	ENSP00000499653.3:p.Ala4138Pro
ENST00000660292.2:c.12445G>C	ENSP00000499787.2:p.Ala4149Pro
ENST00000659194.2:c.4601G>C
ENST00000366574.7:c.12424G>C MANE Select	ENSP00000355533.2:p.Ala4142Pro
ENST00000659194.1:c.4601G>C
ENST00000660292.1:c.2477G>C
ENST00000360064.7:c.12376G>C	ENSP00000353174.7:p.Ala4126Pro
ENST00000366574.6:c.12424G>C	ENSP00000355533.2:p.Ala4142Pro
ENST00000609119.1:n.3619G>C
NM_001035.2:c.12424G>C	NP_001026.2:p.Ala4142Pro
XM_006711802.2:c.12478G>C	XP_006711865.1:p.Ala4160Pro
XM_006711803.2:c.12475G>C	XP_006711866.1:p.Ala4159Pro
XM_006711804.2:c.12454G>C	XP_006711867.1:p.Ala4152Pro
XM_006711805.2:c.12448G>C	XP_006711868.1:p.Ala4150Pro
XM_006711806.2:c.12442G>C	XP_006711869.1:p.Ala4148Pro
XM_006711807.2:c.12418G>C	XP_006711870.1:p.Ala4140Pro
XM_006711808.2:c.12241G>C	XP_006711871.1:p.Ala4081Pro
XM_006711810.2:c.12385G>C	XP_006711873.1:p.Ala4129Pro
XM_006711802.3:c.12478G>C	XP_006711865.1:p.Ala4160Pro
XM_006711803.3:c.12475G>C	XP_006711866.1:p.Ala4159Pro
XM_006711804.3:c.12454G>C	XP_006711867.1:p.Ala4152Pro
XM_006711805.3:c.12448G>C	XP_006711868.1:p.Ala4150Pro
XM_006711806.3:c.12442G>C	XP_006711869.1:p.Ala4148Pro
XM_006711807.3:c.12418G>C	XP_006711870.1:p.Ala4140Pro
XM_006711808.3:c.12241G>C	XP_006711871.1:p.Ala4081Pro
XM_006711810.3:c.12385G>C	XP_006711873.1:p.Ala4129Pro
XM_017002028.1:c.12457G>C	XP_016857517.1:p.Ala4153Pro
NM_001035.3:c.12424G>C MANE Select	NP_001026.2:p.Ala4142Pro