Canonical Allele Identifier: CA345427140

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237757702A>T , CM000663.2:g.237757702A>T	GRCh38
NC_000001.10:g.237921002A>T , CM000663.1:g.237921002A>T	GRCh37
NC_000001.9:g.235987625A>T	NCBI36
NG_008799.2:g.720301A>T
NG_008799.3:g.720519A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.11251A>T MANE Select	NP_001026.2:p.Thr3751Ser
ENST00000366574.7:c.11251A>T MANE Select	ENSP00000355533.2:p.Thr3751Ser
NM_001035.2:c.11251A>T	NP_001026.2:p.Thr3751Ser
ENST00000360064.7:c.11203A>T	ENSP00000353174.7:p.Thr3735Ser
ENST00000366574.6:c.11251A>T	ENSP00000355533.2:p.Thr3751Ser
ENST00000609119.1:n.2446A>T
ENST00000609119.2:c.*2343A>T	ENSP00000499659.2:n.*2343A>T
ENST00000659194.1:c.3428A>T
ENST00000659194.2:c.3428A>T
ENST00000659194.3:c.11239A>T	ENSP00000499653.3:p.Thr3747Ser
ENST00000660292.1:c.1271A>T
ENST00000660292.2:c.11239A>T	ENSP00000499787.2:p.Thr3747Ser
XM_006711802.2:c.11305A>T	XP_006711865.1:p.Thr3769Ser
XM_006711802.3:c.11305A>T	XP_006711865.1:p.Thr3769Ser
XM_006711803.2:c.11302A>T	XP_006711866.1:p.Thr3768Ser
XM_006711803.3:c.11302A>T	XP_006711866.1:p.Thr3768Ser
XM_006711804.2:c.11281A>T	XP_006711867.1:p.Thr3761Ser
XM_006711804.3:c.11281A>T	XP_006711867.1:p.Thr3761Ser
XM_006711805.2:c.11275A>T	XP_006711868.1:p.Thr3759Ser
XM_006711805.3:c.11275A>T	XP_006711868.1:p.Thr3759Ser
XM_006711806.2:c.11269A>T	XP_006711869.1:p.Thr3757Ser
XM_006711806.3:c.11269A>T	XP_006711869.1:p.Thr3757Ser
XM_006711807.2:c.11245A>T	XP_006711870.1:p.Thr3749Ser
XM_006711807.3:c.11245A>T	XP_006711870.1:p.Thr3749Ser
XM_006711808.2:c.11068A>T	XP_006711871.1:p.Thr3690Ser
XM_006711808.3:c.11068A>T	XP_006711871.1:p.Thr3690Ser
XM_006711810.2:c.11212A>T	XP_006711873.1:p.Thr3738Ser
XM_006711810.3:c.11212A>T	XP_006711873.1:p.Thr3738Ser
XM_017002028.1:c.11284A>T	XP_016857517.1:p.Thr3762Ser