Canonical Allele Identifier: CA16610052

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237756342C>T , CM000663.2:g.237756342C>T	GRCh38
NC_000001.10:g.237919642C>T , CM000663.1:g.237919642C>T	GRCh37
NC_000001.9:g.235986265C>T	NCBI36
NG_008799.2:g.718941C>T
NG_008799.3:g.719159C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2292C>T	ENSP00000499659.2:n.*2292C>T
ENST00000659194.3:c.11188C>T	ENSP00000499653.3:p.Arg3730Cys
ENST00000660292.2:c.11188C>T	ENSP00000499787.2:p.Arg3730Cys
ENST00000659194.2:c.3377C>T
ENST00000366574.7:c.11200C>T MANE Select	ENSP00000355533.2:p.Arg3734Cys
ENST00000659194.1:c.3377C>T
ENST00000660292.1:c.1220C>T
ENST00000360064.7:c.11152C>T	ENSP00000353174.7:p.Arg3718Cys
ENST00000366574.6:c.11200C>T	ENSP00000355533.2:p.Arg3734Cys
ENST00000609119.1:n.2395C>T
NM_001035.2:c.11200C>T	NP_001026.2:p.Arg3734Cys
XM_006711802.2:c.11254C>T	XP_006711865.1:p.Arg3752Cys
XM_006711803.2:c.11251C>T	XP_006711866.1:p.Arg3751Cys
XM_006711804.2:c.11230C>T	XP_006711867.1:p.Arg3744Cys
XM_006711805.2:c.11224C>T	XP_006711868.1:p.Arg3742Cys
XM_006711806.2:c.11218C>T	XP_006711869.1:p.Arg3740Cys
XM_006711807.2:c.11194C>T	XP_006711870.1:p.Arg3732Cys
XM_006711808.2:c.11017C>T	XP_006711871.1:p.Arg3673Cys
XM_006711810.2:c.11161C>T	XP_006711873.1:p.Arg3721Cys
XM_006711802.3:c.11254C>T	XP_006711865.1:p.Arg3752Cys
XM_006711803.3:c.11251C>T	XP_006711866.1:p.Arg3751Cys
XM_006711804.3:c.11230C>T	XP_006711867.1:p.Arg3744Cys
XM_006711805.3:c.11224C>T	XP_006711868.1:p.Arg3742Cys
XM_006711806.3:c.11218C>T	XP_006711869.1:p.Arg3740Cys
XM_006711807.3:c.11194C>T	XP_006711870.1:p.Arg3732Cys
XM_006711808.3:c.11017C>T	XP_006711871.1:p.Arg3673Cys
XM_006711810.3:c.11161C>T	XP_006711873.1:p.Arg3721Cys
XM_017002028.1:c.11233C>T	XP_016857517.1:p.Arg3745Cys
NM_001035.3:c.11200C>T MANE Select	NP_001026.2:p.Arg3734Cys