Canonical Allele Identifier: CA345413580

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784251G>T , CM000663.2:g.237784251G>T	GRCh38
NC_000001.10:g.237947551G>T , CM000663.1:g.237947551G>T	GRCh37
NC_000001.9:g.236014174G>T	NCBI36
NG_008799.2:g.746850G>T
NG_008799.3:g.747068G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.12539G>T MANE Select	NP_001026.2:p.Gly4180Val
ENST00000366574.7:c.12539G>T MANE Select	ENSP00000355533.2:p.Gly4180Val
NM_001035.2:c.12539G>T	NP_001026.2:p.Gly4180Val
ENST00000360064.7:c.12491G>T	ENSP00000353174.7:p.Gly4164Val
ENST00000366574.6:c.12539G>T	ENSP00000355533.2:p.Gly4180Val
ENST00000609119.1:n.3734G>T
ENST00000609119.2:c.*3631G>T	ENSP00000499659.2:n.*3631G>T
ENST00000659194.1:c.4716G>T
ENST00000659194.2:c.4716G>T
ENST00000659194.3:c.12527G>T	ENSP00000499653.3:p.Gly4176Val
ENST00000660292.1:c.2592G>T
ENST00000660292.2:c.12560G>T	ENSP00000499787.2:p.Gly4187Val
XM_006711802.2:c.12593G>T	XP_006711865.1:p.Gly4198Val
XM_006711802.3:c.12593G>T	XP_006711865.1:p.Gly4198Val
XM_006711803.2:c.12590G>T	XP_006711866.1:p.Gly4197Val
XM_006711803.3:c.12590G>T	XP_006711866.1:p.Gly4197Val
XM_006711804.2:c.12569G>T	XP_006711867.1:p.Gly4190Val
XM_006711804.3:c.12569G>T	XP_006711867.1:p.Gly4190Val
XM_006711805.2:c.12563G>T	XP_006711868.1:p.Gly4188Val
XM_006711805.3:c.12563G>T	XP_006711868.1:p.Gly4188Val
XM_006711806.2:c.12557G>T	XP_006711869.1:p.Gly4186Val
XM_006711806.3:c.12557G>T	XP_006711869.1:p.Gly4186Val
XM_006711807.2:c.12533G>T	XP_006711870.1:p.Gly4178Val
XM_006711807.3:c.12533G>T	XP_006711870.1:p.Gly4178Val
XM_006711808.2:c.12356G>T	XP_006711871.1:p.Gly4119Val
XM_006711808.3:c.12356G>T	XP_006711871.1:p.Gly4119Val
XM_006711810.2:c.12500G>T	XP_006711873.1:p.Gly4167Val
XM_006711810.3:c.12500G>T	XP_006711873.1:p.Gly4167Val
XM_017002028.1:c.12572G>T	XP_016857517.1:p.Gly4191Val