Canonical Allele Identifier: CA345413641

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947578T>C (hg19) ; chr1:g.237784278T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784278T>C , CM000663.2:g.237784278T>C	GRCh38
NC_000001.10:g.237947578T>C , CM000663.1:g.237947578T>C	GRCh37
NC_000001.9:g.236014201T>C	NCBI36
NG_008799.2:g.746877T>C
NG_008799.3:g.747095T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3658T>C	ENSP00000499659.2:n.*3658T>C
ENST00000659194.3:c.12554T>C	ENSP00000499653.3:p.Phe4185Ser
ENST00000660292.2:c.12587T>C	ENSP00000499787.2:p.Phe4196Ser
ENST00000659194.2:c.4743T>C
ENST00000366574.7:c.12566T>C MANE Select	ENSP00000355533.2:p.Phe4189Ser
ENST00000659194.1:c.4743T>C
ENST00000660292.1:c.2619T>C
ENST00000360064.7:c.12518T>C	ENSP00000353174.7:p.Phe4173Ser
ENST00000366574.6:c.12566T>C	ENSP00000355533.2:p.Phe4189Ser
ENST00000609119.1:n.3761T>C
NM_001035.2:c.12566T>C	NP_001026.2:p.Phe4189Ser
XM_006711802.2:c.12620T>C	XP_006711865.1:p.Phe4207Ser
XM_006711803.2:c.12617T>C	XP_006711866.1:p.Phe4206Ser
XM_006711804.2:c.12596T>C	XP_006711867.1:p.Phe4199Ser
XM_006711805.2:c.12590T>C	XP_006711868.1:p.Phe4197Ser
XM_006711806.2:c.12584T>C	XP_006711869.1:p.Phe4195Ser
XM_006711807.2:c.12560T>C	XP_006711870.1:p.Phe4187Ser
XM_006711808.2:c.12383T>C	XP_006711871.1:p.Phe4128Ser
XM_006711810.2:c.12527T>C	XP_006711873.1:p.Phe4176Ser
XM_006711802.3:c.12620T>C	XP_006711865.1:p.Phe4207Ser
XM_006711803.3:c.12617T>C	XP_006711866.1:p.Phe4206Ser
XM_006711804.3:c.12596T>C	XP_006711867.1:p.Phe4199Ser
XM_006711805.3:c.12590T>C	XP_006711868.1:p.Phe4197Ser
XM_006711806.3:c.12584T>C	XP_006711869.1:p.Phe4195Ser
XM_006711807.3:c.12560T>C	XP_006711870.1:p.Phe4187Ser
XM_006711808.3:c.12383T>C	XP_006711871.1:p.Phe4128Ser
XM_006711810.3:c.12527T>C	XP_006711873.1:p.Phe4176Ser
XM_017002028.1:c.12599T>C	XP_016857517.1:p.Phe4200Ser
NM_001035.3:c.12566T>C MANE Select	NP_001026.2:p.Phe4189Ser