Canonical Allele Identifier: CA345413671

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947591C>G (hg19) ; chr1:g.237784291C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784291C>G , CM000663.2:g.237784291C>G	GRCh38
NC_000001.10:g.237947591C>G , CM000663.1:g.237947591C>G	GRCh37
NC_000001.9:g.236014214C>G	NCBI36
NG_008799.2:g.746890C>G
NG_008799.3:g.747108C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3671C>G	ENSP00000499659.2:n.*3671C>G
ENST00000659194.3:c.12567C>G	ENSP00000499653.3:p.Cys4189Trp
ENST00000660292.2:c.12600C>G	ENSP00000499787.2:p.Cys4200Trp
ENST00000659194.2:c.4756C>G
ENST00000366574.7:c.12579C>G MANE Select	ENSP00000355533.2:p.Cys4193Trp
ENST00000659194.1:c.4756C>G
ENST00000660292.1:c.2632C>G
ENST00000360064.7:c.12531C>G	ENSP00000353174.7:p.Cys4177Trp
ENST00000366574.6:c.12579C>G	ENSP00000355533.2:p.Cys4193Trp
ENST00000609119.1:n.3774C>G
NM_001035.2:c.12579C>G	NP_001026.2:p.Cys4193Trp
XM_006711802.2:c.12633C>G	XP_006711865.1:p.Cys4211Trp
XM_006711803.2:c.12630C>G	XP_006711866.1:p.Cys4210Trp
XM_006711804.2:c.12609C>G	XP_006711867.1:p.Cys4203Trp
XM_006711805.2:c.12603C>G	XP_006711868.1:p.Cys4201Trp
XM_006711806.2:c.12597C>G	XP_006711869.1:p.Cys4199Trp
XM_006711807.2:c.12573C>G	XP_006711870.1:p.Cys4191Trp
XM_006711808.2:c.12396C>G	XP_006711871.1:p.Cys4132Trp
XM_006711810.2:c.12540C>G	XP_006711873.1:p.Cys4180Trp
XM_006711802.3:c.12633C>G	XP_006711865.1:p.Cys4211Trp
XM_006711803.3:c.12630C>G	XP_006711866.1:p.Cys4210Trp
XM_006711804.3:c.12609C>G	XP_006711867.1:p.Cys4203Trp
XM_006711805.3:c.12603C>G	XP_006711868.1:p.Cys4201Trp
XM_006711806.3:c.12597C>G	XP_006711869.1:p.Cys4199Trp
XM_006711807.3:c.12573C>G	XP_006711870.1:p.Cys4191Trp
XM_006711808.3:c.12396C>G	XP_006711871.1:p.Cys4132Trp
XM_006711810.3:c.12540C>G	XP_006711873.1:p.Cys4180Trp
XM_017002028.1:c.12612C>G	XP_016857517.1:p.Cys4204Trp
NM_001035.3:c.12579C>G MANE Select	NP_001026.2:p.Cys4193Trp