Canonical Allele Identifier: CA345413635

Gene: RYR2

Linked Data

• gnomAD v4: 1-237784275-T-G
• MyVariant Identifiers: chr1:g.237947575T>G (hg19) ; chr1:g.237784275T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3655T>G	ENSP00000499659.2:n.*3655T>G
ENST00000659194.3:c.12551T>G	ENSP00000499653.3:p.Leu4184Arg
ENST00000660292.2:c.12584T>G	ENSP00000499787.2:p.Leu4195Arg
ENST00000659194.2:c.4740T>G
ENST00000366574.7:c.12563T>G MANE Select	ENSP00000355533.2:p.Leu4188Arg
ENST00000659194.1:c.4740T>G
ENST00000660292.1:c.2616T>G
ENST00000360064.7:c.12515T>G	ENSP00000353174.7:p.Leu4172Arg
ENST00000366574.6:c.12563T>G	ENSP00000355533.2:p.Leu4188Arg
ENST00000609119.1:n.3758T>G
NM_001035.2:c.12563T>G	NP_001026.2:p.Leu4188Arg
XM_006711802.2:c.12617T>G	XP_006711865.1:p.Leu4206Arg
XM_006711803.2:c.12614T>G	XP_006711866.1:p.Leu4205Arg
XM_006711804.2:c.12593T>G	XP_006711867.1:p.Leu4198Arg
XM_006711805.2:c.12587T>G	XP_006711868.1:p.Leu4196Arg
XM_006711806.2:c.12581T>G	XP_006711869.1:p.Leu4194Arg
XM_006711807.2:c.12557T>G	XP_006711870.1:p.Leu4186Arg
XM_006711808.2:c.12380T>G	XP_006711871.1:p.Leu4127Arg
XM_006711810.2:c.12524T>G	XP_006711873.1:p.Leu4175Arg
XM_006711802.3:c.12617T>G	XP_006711865.1:p.Leu4206Arg
XM_006711803.3:c.12614T>G	XP_006711866.1:p.Leu4205Arg
XM_006711804.3:c.12593T>G	XP_006711867.1:p.Leu4198Arg
XM_006711805.3:c.12587T>G	XP_006711868.1:p.Leu4196Arg
XM_006711806.3:c.12581T>G	XP_006711869.1:p.Leu4194Arg
XM_006711807.3:c.12557T>G	XP_006711870.1:p.Leu4186Arg
XM_006711808.3:c.12380T>G	XP_006711871.1:p.Leu4127Arg
XM_006711810.3:c.12524T>G	XP_006711873.1:p.Leu4175Arg
XM_017002028.1:c.12596T>G	XP_016857517.1:p.Leu4199Arg
NM_001035.3:c.12563T>G MANE Select	NP_001026.2:p.Leu4188Arg