Canonical Allele Identifier: CA345413518

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947526T>C (hg19) ; chr1:g.237784226T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784226T>C , CM000663.2:g.237784226T>C	GRCh38
NC_000001.10:g.237947526T>C , CM000663.1:g.237947526T>C	GRCh37
NC_000001.9:g.236014149T>C	NCBI36
NG_008799.2:g.746825T>C
NG_008799.3:g.747043T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3606T>C	ENSP00000499659.2:n.*3606T>C
ENST00000659194.3:c.12502T>C	ENSP00000499653.3:p.Phe4168Leu
ENST00000660292.2:c.12535T>C	ENSP00000499787.2:p.Phe4179Leu
ENST00000659194.2:c.4691T>C
ENST00000366574.7:c.12514T>C MANE Select	ENSP00000355533.2:p.Phe4172Leu
ENST00000659194.1:c.4691T>C
ENST00000660292.1:c.2567T>C
ENST00000360064.7:c.12466T>C	ENSP00000353174.7:p.Phe4156Leu
ENST00000366574.6:c.12514T>C	ENSP00000355533.2:p.Phe4172Leu
ENST00000609119.1:n.3709T>C
NM_001035.2:c.12514T>C	NP_001026.2:p.Phe4172Leu
XM_006711802.2:c.12568T>C	XP_006711865.1:p.Phe4190Leu
XM_006711803.2:c.12565T>C	XP_006711866.1:p.Phe4189Leu
XM_006711804.2:c.12544T>C	XP_006711867.1:p.Phe4182Leu
XM_006711805.2:c.12538T>C	XP_006711868.1:p.Phe4180Leu
XM_006711806.2:c.12532T>C	XP_006711869.1:p.Phe4178Leu
XM_006711807.2:c.12508T>C	XP_006711870.1:p.Phe4170Leu
XM_006711808.2:c.12331T>C	XP_006711871.1:p.Phe4111Leu
XM_006711810.2:c.12475T>C	XP_006711873.1:p.Phe4159Leu
XM_006711802.3:c.12568T>C	XP_006711865.1:p.Phe4190Leu
XM_006711803.3:c.12565T>C	XP_006711866.1:p.Phe4189Leu
XM_006711804.3:c.12544T>C	XP_006711867.1:p.Phe4182Leu
XM_006711805.3:c.12538T>C	XP_006711868.1:p.Phe4180Leu
XM_006711806.3:c.12532T>C	XP_006711869.1:p.Phe4178Leu
XM_006711807.3:c.12508T>C	XP_006711870.1:p.Phe4170Leu
XM_006711808.3:c.12331T>C	XP_006711871.1:p.Phe4111Leu
XM_006711810.3:c.12475T>C	XP_006711873.1:p.Phe4159Leu
XM_017002028.1:c.12547T>C	XP_016857517.1:p.Phe4183Leu
NM_001035.3:c.12514T>C MANE Select	NP_001026.2:p.Phe4172Leu