Canonical Allele Identifier: CA345406106

Gene: RYR2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237700395G>T , CM000663.2:g.237700395G>T	GRCh38
NC_000001.10:g.237863695G>T , CM000663.1:g.237863695G>T	GRCh37
NC_000001.9:g.235930318G>T	NCBI36
NG_008799.2:g.662994G>T
NG_008799.3:g.663212G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*330G>T	ENSP00000499659.2:n.*330G>T
ENST00000659194.3:c.9295G>T	ENSP00000499653.3:p.Val3099Leu
ENST00000660292.2:c.9295G>T	ENSP00000499787.2:p.Val3099Leu
ENST00000659194.2:c.1484G>T
ENST00000366574.7:c.9295G>T MANE Select	ENSP00000355533.2:p.Val3099Leu
ENST00000659194.1:c.1484G>T
ENST00000360064.7:c.9247G>T	ENSP00000353174.7:p.Val3083Leu
ENST00000366574.6:c.9295G>T	ENSP00000355533.2:p.Val3099Leu
ENST00000609119.1:n.433G>T
NM_001035.2:c.9295G>T	NP_001026.2:p.Val3099Leu
XM_006711802.2:c.9325G>T	XP_006711865.1:p.Val3109Leu
XM_006711803.2:c.9322G>T	XP_006711866.1:p.Val3108Leu
XM_006711804.2:c.9325G>T	XP_006711867.1:p.Val3109Leu
XM_006711805.2:c.9295G>T	XP_006711868.1:p.Val3099Leu
XM_006711806.2:c.9325G>T	XP_006711869.1:p.Val3109Leu
XM_006711807.2:c.9325G>T	XP_006711870.1:p.Val3109Leu
XM_006711808.2:c.9088G>T	XP_006711871.1:p.Val3030Leu
XM_006711810.2:c.9292G>T	XP_006711873.1:p.Val3098Leu
XR_949152.1:n.9556G>T
XM_006711802.3:c.9325G>T	XP_006711865.1:p.Val3109Leu
XM_006711803.3:c.9322G>T	XP_006711866.1:p.Val3108Leu
XM_006711804.3:c.9325G>T	XP_006711867.1:p.Val3109Leu
XM_006711805.3:c.9295G>T	XP_006711868.1:p.Val3099Leu
XM_006711806.3:c.9325G>T	XP_006711869.1:p.Val3109Leu
XM_006711807.3:c.9325G>T	XP_006711870.1:p.Val3109Leu
XM_006711808.3:c.9088G>T	XP_006711871.1:p.Val3030Leu
XM_006711810.3:c.9292G>T	XP_006711873.1:p.Val3098Leu
XM_017002028.1:c.9304G>T	XP_016857517.1:p.Val3102Leu
XR_949152.2:n.9589G>T
NM_001035.3:c.9295G>T MANE Select	NP_001026.2:p.Val3099Leu