Canonical Allele Identifier: CA006914

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237756359G>T , CM000663.2:g.237756359G>T	GRCh38
NC_000001.10:g.237919659G>T , CM000663.1:g.237919659G>T	GRCh37
NC_000001.9:g.235986282G>T	NCBI36
NG_008799.2:g.718958G>T
NG_008799.3:g.719176G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.11217G>T MANE Select	NP_001026.2:p.Met3739Ile
ENST00000366574.7:c.11217G>T MANE Select	ENSP00000355533.2:p.Met3739Ile
NM_001035.2:c.11217G>T	NP_001026.2:p.Met3739Ile
ENST00000360064.7:c.11169G>T	ENSP00000353174.7:p.Met3723Ile
ENST00000366574.6:c.11217G>T	ENSP00000355533.2:p.Met3739Ile
ENST00000609119.1:n.2412G>T
ENST00000609119.2:c.*2309G>T	ENSP00000499659.2:n.*2309G>T
ENST00000659194.1:c.3394G>T
ENST00000659194.2:c.3394G>T
ENST00000659194.3:c.11205G>T	ENSP00000499653.3:p.Met3735Ile
ENST00000660292.1:c.1237G>T
ENST00000660292.2:c.11205G>T	ENSP00000499787.2:p.Met3735Ile
XM_006711802.2:c.11271G>T	XP_006711865.1:p.Met3757Ile
XM_006711802.3:c.11271G>T	XP_006711865.1:p.Met3757Ile
XM_006711803.2:c.11268G>T	XP_006711866.1:p.Met3756Ile
XM_006711803.3:c.11268G>T	XP_006711866.1:p.Met3756Ile
XM_006711804.2:c.11247G>T	XP_006711867.1:p.Met3749Ile
XM_006711804.3:c.11247G>T	XP_006711867.1:p.Met3749Ile
XM_006711805.2:c.11241G>T	XP_006711868.1:p.Met3747Ile
XM_006711805.3:c.11241G>T	XP_006711868.1:p.Met3747Ile
XM_006711806.2:c.11235G>T	XP_006711869.1:p.Met3745Ile
XM_006711806.3:c.11235G>T	XP_006711869.1:p.Met3745Ile
XM_006711807.2:c.11211G>T	XP_006711870.1:p.Met3737Ile
XM_006711807.3:c.11211G>T	XP_006711870.1:p.Met3737Ile
XM_006711808.2:c.11034G>T	XP_006711871.1:p.Met3678Ile
XM_006711808.3:c.11034G>T	XP_006711871.1:p.Met3678Ile
XM_006711810.2:c.11178G>T	XP_006711873.1:p.Met3726Ile
XM_006711810.3:c.11178G>T	XP_006711873.1:p.Met3726Ile
XM_017002028.1:c.11250G>T	XP_016857517.1:p.Met3750Ile