Canonical Allele Identifier: CA345413633

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947575T>A (hg19) ; chr1:g.237784275T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784275T>A , CM000663.2:g.237784275T>A	GRCh38
NC_000001.10:g.237947575T>A , CM000663.1:g.237947575T>A	GRCh37
NC_000001.9:g.236014198T>A	NCBI36
NG_008799.2:g.746874T>A
NG_008799.3:g.747092T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3655T>A	ENSP00000499659.2:n.*3655T>A
ENST00000659194.3:c.12551T>A	ENSP00000499653.3:p.Leu4184His
ENST00000660292.2:c.12584T>A	ENSP00000499787.2:p.Leu4195His
ENST00000659194.2:c.4740T>A
ENST00000366574.7:c.12563T>A MANE Select	ENSP00000355533.2:p.Leu4188His
ENST00000659194.1:c.4740T>A
ENST00000660292.1:c.2616T>A
ENST00000360064.7:c.12515T>A	ENSP00000353174.7:p.Leu4172His
ENST00000366574.6:c.12563T>A	ENSP00000355533.2:p.Leu4188His
ENST00000609119.1:n.3758T>A
NM_001035.2:c.12563T>A	NP_001026.2:p.Leu4188His
XM_006711802.2:c.12617T>A	XP_006711865.1:p.Leu4206His
XM_006711803.2:c.12614T>A	XP_006711866.1:p.Leu4205His
XM_006711804.2:c.12593T>A	XP_006711867.1:p.Leu4198His
XM_006711805.2:c.12587T>A	XP_006711868.1:p.Leu4196His
XM_006711806.2:c.12581T>A	XP_006711869.1:p.Leu4194His
XM_006711807.2:c.12557T>A	XP_006711870.1:p.Leu4186His
XM_006711808.2:c.12380T>A	XP_006711871.1:p.Leu4127His
XM_006711810.2:c.12524T>A	XP_006711873.1:p.Leu4175His
XM_006711802.3:c.12617T>A	XP_006711865.1:p.Leu4206His
XM_006711803.3:c.12614T>A	XP_006711866.1:p.Leu4205His
XM_006711804.3:c.12593T>A	XP_006711867.1:p.Leu4198His
XM_006711805.3:c.12587T>A	XP_006711868.1:p.Leu4196His
XM_006711806.3:c.12581T>A	XP_006711869.1:p.Leu4194His
XM_006711807.3:c.12557T>A	XP_006711870.1:p.Leu4186His
XM_006711808.3:c.12380T>A	XP_006711871.1:p.Leu4127His
XM_006711810.3:c.12524T>A	XP_006711873.1:p.Leu4175His
XM_017002028.1:c.12596T>A	XP_016857517.1:p.Leu4199His
NM_001035.3:c.12563T>A MANE Select	NP_001026.2:p.Leu4188His