Canonical Allele Identifier: CA084497

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237726312A>T , CM000663.2:g.237726312A>T	GRCh38
NC_000001.10:g.237889612A>T , CM000663.1:g.237889612A>T	GRCh37
NC_000001.9:g.235956235A>T	NCBI36
NG_008799.2:g.688911A>T
NG_008799.3:g.689129A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.10725+4A>T MANE Select	NP_001026.2:n.10725+4A>T
ENST00000366574.7:c.10725+4A>T MANE Select	ENSP00000355533.2:n.10725+4A>T
NM_001035.2:c.10725+4A>T	NP_001026.2:n.10725+4A>T
ENST00000360064.7:c.10677+4A>T	ENSP00000353174.7:n.10677+4A>T
ENST00000366574.6:c.10725+4A>T	ENSP00000355533.2:n.10725+4A>T
ENST00000609119.1:n.1863+4A>T
ENST00000609119.2:c.*1760+4A>T	ENSP00000499659.2:n.*1760+4A>T
ENST00000609253.1:n.53-775A>T
ENST00000659194.1:c.2879-775A>T
ENST00000659194.2:c.2879-775A>T
ENST00000659194.3:c.10690-775A>T	ENSP00000499653.3:n.10690-775A>T
ENST00000660292.1:c.722-775A>T
ENST00000660292.2:c.10690-775A>T	ENSP00000499787.2:n.10690-775A>T
ENST00000661330.1:c.532+4A>T
XM_006711802.2:c.10755+4A>T	XP_006711865.1:n.10755+4A>T
XM_006711802.3:c.10755+4A>T	XP_006711865.1:n.10755+4A>T
XM_006711803.2:c.10752+4A>T	XP_006711866.1:n.10752+4A>T
XM_006711803.3:c.10752+4A>T	XP_006711866.1:n.10752+4A>T
XM_006711804.2:c.10755+4A>T	XP_006711867.1:n.10755+4A>T
XM_006711804.3:c.10755+4A>T	XP_006711867.1:n.10755+4A>T
XM_006711805.2:c.10725+4A>T	XP_006711868.1:n.10725+4A>T
XM_006711805.3:c.10725+4A>T	XP_006711868.1:n.10725+4A>T
XM_006711806.2:c.10720-775A>T	XP_006711869.1:n.10720-775A>T
XM_006711806.3:c.10720-775A>T	XP_006711869.1:n.10720-775A>T
XM_006711807.2:c.10720-775A>T	XP_006711870.1:n.10720-775A>T
XM_006711807.3:c.10720-775A>T	XP_006711870.1:n.10720-775A>T
XM_006711808.2:c.10518+4A>T	XP_006711871.1:n.10518+4A>T
XM_006711808.3:c.10518+4A>T	XP_006711871.1:n.10518+4A>T
XM_006711810.2:c.10687-775A>T	XP_006711873.1:n.10687-775A>T
XM_006711810.3:c.10687-775A>T	XP_006711873.1:n.10687-775A>T
XM_017002028.1:c.10734+4A>T	XP_016857517.1:n.10734+4A>T