Canonical Allele Identifier: CA007053

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237770826C>T , CM000663.2:g.237770826C>T	GRCh38
NC_000001.10:g.237934126C>T , CM000663.1:g.237934126C>T	GRCh37
NC_000001.9:g.236000749C>T	NCBI36
NG_008799.2:g.733425C>T
NG_008799.3:g.733643C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2588C>T	ENSP00000499659.2:n.*2588C>T
ENST00000659194.3:c.11484C>T	ENSP00000499653.3:p.Asp3828=
ENST00000660292.2:c.11517C>T	ENSP00000499787.2:p.Asp3839=
ENST00000659194.2:c.3673C>T
ENST00000366574.7:c.11496C>T MANE Select	ENSP00000355533.2:p.Asp3832=
ENST00000659194.1:c.3673C>T
ENST00000660292.1:c.1549C>T
ENST00000360064.7:c.11448C>T	ENSP00000353174.7:p.Asp3816=
ENST00000366574.6:c.11496C>T	ENSP00000355533.2:p.Asp3832=
ENST00000609119.1:n.2691C>T
NM_001035.2:c.11496C>T	NP_001026.2:p.Asp3832=
XM_006711802.2:c.11550C>T	XP_006711865.1:p.Asp3850=
XM_006711803.2:c.11547C>T	XP_006711866.1:p.Asp3849=
XM_006711804.2:c.11526C>T	XP_006711867.1:p.Asp3842=
XM_006711805.2:c.11520C>T	XP_006711868.1:p.Asp3840=
XM_006711806.2:c.11514C>T	XP_006711869.1:p.Asp3838=
XM_006711807.2:c.11490C>T	XP_006711870.1:p.Asp3830=
XM_006711808.2:c.11313C>T	XP_006711871.1:p.Asp3771=
XM_006711810.2:c.11457C>T	XP_006711873.1:p.Asp3819=
XM_006711802.3:c.11550C>T	XP_006711865.1:p.Asp3850=
XM_006711803.3:c.11547C>T	XP_006711866.1:p.Asp3849=
XM_006711804.3:c.11526C>T	XP_006711867.1:p.Asp3842=
XM_006711805.3:c.11520C>T	XP_006711868.1:p.Asp3840=
XM_006711806.3:c.11514C>T	XP_006711869.1:p.Asp3838=
XM_006711807.3:c.11490C>T	XP_006711870.1:p.Asp3830=
XM_006711808.3:c.11313C>T	XP_006711871.1:p.Asp3771=
XM_006711810.3:c.11457C>T	XP_006711873.1:p.Asp3819=
XM_017002028.1:c.11529C>T	XP_016857517.1:p.Asp3843=
NM_001035.3:c.11496C>T MANE Select	NP_001026.2:p.Asp3832=