Canonical Allele Identifier: CA063497

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237709527G>T , CM000663.2:g.237709527G>T	GRCh38
NC_000001.10:g.237872827G>T , CM000663.1:g.237872827G>T	GRCh37
NC_000001.9:g.235939450G>T	NCBI36
NG_008799.2:g.672126G>T
NG_008799.3:g.672344G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.10190G>T MANE Select	NP_001026.2:p.Arg3397Leu
ENST00000366574.7:c.10190G>T MANE Select	ENSP00000355533.2:p.Arg3397Leu
NM_001035.2:c.10190G>T	NP_001026.2:p.Arg3397Leu
ENST00000360064.7:c.10142G>T	ENSP00000353174.7:p.Arg3381Leu
ENST00000366574.6:c.10190G>T	ENSP00000355533.2:p.Arg3397Leu
ENST00000609119.1:n.1328G>T
ENST00000609119.2:c.*1225G>T	ENSP00000499659.2:n.*1225G>T
ENST00000659194.1:c.2379G>T
ENST00000659194.2:c.2379G>T
ENST00000659194.3:c.10190G>T	ENSP00000499653.3:p.Arg3397Leu
ENST00000660292.1:c.222G>T
ENST00000660292.2:c.10190G>T	ENSP00000499787.2:p.Arg3397Leu
XM_006711802.2:c.10220G>T	XP_006711865.1:p.Arg3407Leu
XM_006711802.3:c.10220G>T	XP_006711865.1:p.Arg3407Leu
XM_006711803.2:c.10217G>T	XP_006711866.1:p.Arg3406Leu
XM_006711803.3:c.10217G>T	XP_006711866.1:p.Arg3406Leu
XM_006711804.2:c.10220G>T	XP_006711867.1:p.Arg3407Leu
XM_006711804.3:c.10220G>T	XP_006711867.1:p.Arg3407Leu
XM_006711805.2:c.10190G>T	XP_006711868.1:p.Arg3397Leu
XM_006711805.3:c.10190G>T	XP_006711868.1:p.Arg3397Leu
XM_006711806.2:c.10220G>T	XP_006711869.1:p.Arg3407Leu
XM_006711806.3:c.10220G>T	XP_006711869.1:p.Arg3407Leu
XM_006711807.2:c.10220G>T	XP_006711870.1:p.Arg3407Leu
XM_006711807.3:c.10220G>T	XP_006711870.1:p.Arg3407Leu
XM_006711808.2:c.9983G>T	XP_006711871.1:p.Arg3328Leu
XM_006711808.3:c.9983G>T	XP_006711871.1:p.Arg3328Leu
XM_006711810.2:c.10187G>T	XP_006711873.1:p.Arg3396Leu
XM_006711810.3:c.10187G>T	XP_006711873.1:p.Arg3396Leu
XM_017002028.1:c.10199G>T	XP_016857517.1:p.Arg3400Leu