Canonical Allele Identifier: CA2487482437

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784238G= , CM000663.2:g.237784238G=	GRCh38
NC_000001.10:g.237947538G= , CM000663.1:g.237947538G=	GRCh37
NC_000001.9:g.236014161G=	NCBI36
NG_008799.2:g.746837G=
NG_008799.3:g.747055G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3618G=	ENSP00000499659.2:n.*3618G=
ENST00000659194.3:c.12514G=	ENSP00000499653.3:p.Val4172=
ENST00000660292.2:c.12547G=	ENSP00000499787.2:p.Val4183=
ENST00000659194.2:c.4703G=
ENST00000366574.7:c.12526G= MANE Select	ENSP00000355533.2:p.Val4176=
ENST00000659194.1:c.4703G=
ENST00000660292.1:c.2579G=
ENST00000360064.7:c.12478G=	ENSP00000353174.7:p.Val4160=
ENST00000366574.6:c.12526G=	ENSP00000355533.2:p.Val4176=
ENST00000609119.1:n.3721G=
NM_001035.2:c.12526G=	NP_001026.2:p.Val4176=
XM_006711802.2:c.12580G=	XP_006711865.1:p.Val4194=
XM_006711803.2:c.12577G=	XP_006711866.1:p.Val4193=
XM_006711804.2:c.12556G=	XP_006711867.1:p.Val4186=
XM_006711805.2:c.12550G=	XP_006711868.1:p.Val4184=
XM_006711806.2:c.12544G=	XP_006711869.1:p.Val4182=
XM_006711807.2:c.12520G=	XP_006711870.1:p.Val4174=
XM_006711808.2:c.12343G=	XP_006711871.1:p.Val4115=
XM_006711810.2:c.12487G=	XP_006711873.1:p.Val4163=
XM_006711802.3:c.12580G=	XP_006711865.1:p.Val4194=
XM_006711803.3:c.12577G=	XP_006711866.1:p.Val4193=
XM_006711804.3:c.12556G=	XP_006711867.1:p.Val4186=
XM_006711805.3:c.12550G=	XP_006711868.1:p.Val4184=
XM_006711806.3:c.12544G=	XP_006711869.1:p.Val4182=
XM_006711807.3:c.12520G=	XP_006711870.1:p.Val4174=
XM_006711808.3:c.12343G=	XP_006711871.1:p.Val4115=
XM_006711810.3:c.12487G=	XP_006711873.1:p.Val4163=
XM_017002028.1:c.12559G=	XP_016857517.1:p.Val4187=
NM_001035.3:c.12526G= MANE Select	NP_001026.2:p.Val4176=