Canonical Allele Identifier: CA007721

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784570C>T , CM000663.2:g.237784570C>T	GRCh38
NC_000001.10:g.237947870C>T , CM000663.1:g.237947870C>T	GRCh37
NC_000001.9:g.236014493C>T	NCBI36
NG_008799.2:g.747169C>T
NG_008799.3:g.747387C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3950C>T	ENSP00000499659.2:n.*3950C>T
ENST00000659194.3:c.12846C>T	ENSP00000499653.3:p.Ser4282=
ENST00000660292.2:c.12879C>T	ENSP00000499787.2:p.Ser4293=
ENST00000659194.2:c.5035C>T
ENST00000366574.7:c.12858C>T MANE Select	ENSP00000355533.2:p.Ser4286=
ENST00000659194.1:c.5035C>T
ENST00000660292.1:c.2911C>T
ENST00000360064.7:c.12810C>T	ENSP00000353174.7:p.Ser4270=
ENST00000366574.6:c.12858C>T	ENSP00000355533.2:p.Ser4286=
ENST00000609119.1:n.4053C>T
NM_001035.2:c.12858C>T	NP_001026.2:p.Ser4286=
XM_006711802.2:c.12912C>T	XP_006711865.1:p.Ser4304=
XM_006711803.2:c.12909C>T	XP_006711866.1:p.Ser4303=
XM_006711804.2:c.12888C>T	XP_006711867.1:p.Ser4296=
XM_006711805.2:c.12882C>T	XP_006711868.1:p.Ser4294=
XM_006711806.2:c.12876C>T	XP_006711869.1:p.Ser4292=
XM_006711807.2:c.12852C>T	XP_006711870.1:p.Ser4284=
XM_006711808.2:c.12675C>T	XP_006711871.1:p.Ser4225=
XM_006711810.2:c.12819C>T	XP_006711873.1:p.Ser4273=
XM_006711802.3:c.12912C>T	XP_006711865.1:p.Ser4304=
XM_006711803.3:c.12909C>T	XP_006711866.1:p.Ser4303=
XM_006711804.3:c.12888C>T	XP_006711867.1:p.Ser4296=
XM_006711805.3:c.12882C>T	XP_006711868.1:p.Ser4294=
XM_006711806.3:c.12876C>T	XP_006711869.1:p.Ser4292=
XM_006711807.3:c.12852C>T	XP_006711870.1:p.Ser4284=
XM_006711808.3:c.12675C>T	XP_006711871.1:p.Ser4225=
XM_006711810.3:c.12819C>T	XP_006711873.1:p.Ser4273=
XM_017002028.1:c.12891C>T	XP_016857517.1:p.Ser4297=
NM_001035.3:c.12858C>T MANE Select	NP_001026.2:p.Ser4286=