Canonical Allele Identifier: CA007973

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237792107C>T , CM000663.2:g.237792107C>T	GRCh38
NC_000001.10:g.237955407C>T , CM000663.1:g.237955407C>T	GRCh37
NC_000001.9:g.236022030C>T	NCBI36
NG_008799.2:g.754706C>T
NG_008799.3:g.754924C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*4658C>T	ENSP00000499659.2:n.*4658C>T
ENST00000659194.3:c.13548C>T	ENSP00000499653.3:p.Val4516=
ENST00000660292.2:c.13587C>T	ENSP00000499787.2:p.Val4529=
ENST00000659194.2:c.5737C>T
ENST00000366574.7:c.13566C>T MANE Select	ENSP00000355533.2:p.Val4522=
ENST00000660292.1:c.3619C>T
ENST00000360064.7:c.13515C>T	ENSP00000353174.7:p.Val4505=
ENST00000366574.6:c.13566C>T	ENSP00000355533.2:p.Val4522=
ENST00000608590.5:n.77C>T
NM_001035.2:c.13566C>T	NP_001026.2:p.Val4522=
XM_006711802.2:c.13620C>T	XP_006711865.1:p.Val4540=
XM_006711803.2:c.13617C>T	XP_006711866.1:p.Val4539=
XM_006711804.2:c.13596C>T	XP_006711867.1:p.Val4532=
XM_006711805.2:c.13590C>T	XP_006711868.1:p.Val4530=
XM_006711806.2:c.13584C>T	XP_006711869.1:p.Val4528=
XM_006711807.2:c.13560C>T	XP_006711870.1:p.Val4520=
XM_006711808.2:c.13383C>T	XP_006711871.1:p.Val4461=
XM_006711810.2:c.13527C>T	XP_006711873.1:p.Val4509=
XM_006711802.3:c.13620C>T	XP_006711865.1:p.Val4540=
XM_006711803.3:c.13617C>T	XP_006711866.1:p.Val4539=
XM_006711804.3:c.13596C>T	XP_006711867.1:p.Val4532=
XM_006711805.3:c.13590C>T	XP_006711868.1:p.Val4530=
XM_006711806.3:c.13584C>T	XP_006711869.1:p.Val4528=
XM_006711807.3:c.13560C>T	XP_006711870.1:p.Val4520=
XM_006711808.3:c.13383C>T	XP_006711871.1:p.Val4461=
XM_006711810.3:c.13527C>T	XP_006711873.1:p.Val4509=
XM_017002028.1:c.13599C>T	XP_016857517.1:p.Val4533=
NM_001035.3:c.13566C>T MANE Select	NP_001026.2:p.Val4522=