Canonical Allele Identifier: CA2487482464

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784281T= , CM000663.2:g.237784281T=	GRCh38
NC_000001.10:g.237947581T= , CM000663.1:g.237947581T=	GRCh37
NC_000001.9:g.236014204T=	NCBI36
NG_008799.2:g.746880T=
NG_008799.3:g.747098T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3661T=	ENSP00000499659.2:n.*3661T=
ENST00000659194.3:c.12557T=	ENSP00000499653.3:p.Val4186=
ENST00000660292.2:c.12590T=	ENSP00000499787.2:p.Val4197=
ENST00000659194.2:c.4746T=
ENST00000366574.7:c.12569T= MANE Select	ENSP00000355533.2:p.Val4190=
ENST00000659194.1:c.4746T=
ENST00000660292.1:c.2622T=
ENST00000360064.7:c.12521T=	ENSP00000353174.7:p.Val4174=
ENST00000366574.6:c.12569T=	ENSP00000355533.2:p.Val4190=
ENST00000609119.1:n.3764T=
NM_001035.2:c.12569T=	NP_001026.2:p.Val4190=
XM_006711802.2:c.12623T=	XP_006711865.1:p.Val4208=
XM_006711803.2:c.12620T=	XP_006711866.1:p.Val4207=
XM_006711804.2:c.12599T=	XP_006711867.1:p.Val4200=
XM_006711805.2:c.12593T=	XP_006711868.1:p.Val4198=
XM_006711806.2:c.12587T=	XP_006711869.1:p.Val4196=
XM_006711807.2:c.12563T=	XP_006711870.1:p.Val4188=
XM_006711808.2:c.12386T=	XP_006711871.1:p.Val4129=
XM_006711810.2:c.12530T=	XP_006711873.1:p.Val4177=
XM_006711802.3:c.12623T=	XP_006711865.1:p.Val4208=
XM_006711803.3:c.12620T=	XP_006711866.1:p.Val4207=
XM_006711804.3:c.12599T=	XP_006711867.1:p.Val4200=
XM_006711805.3:c.12593T=	XP_006711868.1:p.Val4198=
XM_006711806.3:c.12587T=	XP_006711869.1:p.Val4196=
XM_006711807.3:c.12563T=	XP_006711870.1:p.Val4188=
XM_006711808.3:c.12386T=	XP_006711871.1:p.Val4129=
XM_006711810.3:c.12530T=	XP_006711873.1:p.Val4177=
XM_017002028.1:c.12602T=	XP_016857517.1:p.Val4201=
NM_001035.3:c.12569T= MANE Select	NP_001026.2:p.Val4190=