Canonical Allele Identifier: CA084642

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237732083C>G , CM000663.2:g.237732083C>G	GRCh38
NC_000001.10:g.237895383C>G , CM000663.1:g.237895383C>G	GRCh37
NC_000001.9:g.235962006C>G	NCBI36
NG_008799.2:g.694682C>G
NG_008799.3:g.694900C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.10973C>G MANE Select	NP_001026.2:p.Thr3658Ser
ENST00000366574.7:c.10973C>G MANE Select	ENSP00000355533.2:p.Thr3658Ser
NM_001035.2:c.10973C>G	NP_001026.2:p.Thr3658Ser
ENST00000360064.7:c.10925C>G	ENSP00000353174.7:p.Thr3642Ser
ENST00000366574.6:c.10973C>G	ENSP00000355533.2:p.Thr3658Ser
ENST00000609119.1:n.2111C>G
ENST00000609119.2:c.*2008C>G	ENSP00000499659.2:n.*2008C>G
ENST00000659194.1:c.3126C>G
ENST00000659194.2:c.3126C>G
ENST00000659194.3:c.10937C>G	ENSP00000499653.3:p.Thr3646Ser
ENST00000660292.1:c.969C>G
ENST00000660292.2:c.10937C>G	ENSP00000499787.2:p.Thr3646Ser
ENST00000661330.1:c.780C>G
XM_006711802.2:c.11003C>G	XP_006711865.1:p.Thr3668Ser
XM_006711802.3:c.11003C>G	XP_006711865.1:p.Thr3668Ser
XM_006711803.2:c.11000C>G	XP_006711866.1:p.Thr3667Ser
XM_006711803.3:c.11000C>G	XP_006711866.1:p.Thr3667Ser
XM_006711804.2:c.11003C>G	XP_006711867.1:p.Thr3668Ser
XM_006711804.3:c.11003C>G	XP_006711867.1:p.Thr3668Ser
XM_006711805.2:c.10973C>G	XP_006711868.1:p.Thr3658Ser
XM_006711805.3:c.10973C>G	XP_006711868.1:p.Thr3658Ser
XM_006711806.2:c.10967C>G	XP_006711869.1:p.Thr3656Ser
XM_006711806.3:c.10967C>G	XP_006711869.1:p.Thr3656Ser
XM_006711807.2:c.10967C>G	XP_006711870.1:p.Thr3656Ser
XM_006711807.3:c.10967C>G	XP_006711870.1:p.Thr3656Ser
XM_006711808.2:c.10766C>G	XP_006711871.1:p.Thr3589Ser
XM_006711808.3:c.10766C>G	XP_006711871.1:p.Thr3589Ser
XM_006711810.2:c.10934C>G	XP_006711873.1:p.Thr3645Ser
XM_006711810.3:c.10934C>G	XP_006711873.1:p.Thr3645Ser
XM_017002028.1:c.10982C>G	XP_016857517.1:p.Thr3661Ser