Canonical Allele Identifier: CA345407225

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237772077G>T , CM000663.2:g.237772077G>T	GRCh38
NC_000001.10:g.237935377G>T , CM000663.1:g.237935377G>T	GRCh37
NC_000001.9:g.236002000G>T	NCBI36
NG_008799.2:g.734676G>T
NG_008799.3:g.734894G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.11623G>T MANE Select	NP_001026.2:p.Val3875Leu
ENST00000366574.7:c.11623G>T MANE Select	ENSP00000355533.2:p.Val3875Leu
NM_001035.2:c.11623G>T	NP_001026.2:p.Val3875Leu
ENST00000360064.7:c.11575G>T	ENSP00000353174.7:p.Val3859Leu
ENST00000366574.6:c.11623G>T	ENSP00000355533.2:p.Val3875Leu
ENST00000609119.1:n.2818G>T
ENST00000609119.2:c.*2715G>T	ENSP00000499659.2:n.*2715G>T
ENST00000659194.1:c.3800G>T
ENST00000659194.2:c.3800G>T
ENST00000659194.3:c.11611G>T	ENSP00000499653.3:p.Val3871Leu
ENST00000660292.1:c.1676G>T
ENST00000660292.2:c.11644G>T	ENSP00000499787.2:p.Val3882Leu
XM_006711802.2:c.11677G>T	XP_006711865.1:p.Val3893Leu
XM_006711802.3:c.11677G>T	XP_006711865.1:p.Val3893Leu
XM_006711803.2:c.11674G>T	XP_006711866.1:p.Val3892Leu
XM_006711803.3:c.11674G>T	XP_006711866.1:p.Val3892Leu
XM_006711804.2:c.11653G>T	XP_006711867.1:p.Val3885Leu
XM_006711804.3:c.11653G>T	XP_006711867.1:p.Val3885Leu
XM_006711805.2:c.11647G>T	XP_006711868.1:p.Val3883Leu
XM_006711805.3:c.11647G>T	XP_006711868.1:p.Val3883Leu
XM_006711806.2:c.11641G>T	XP_006711869.1:p.Val3881Leu
XM_006711806.3:c.11641G>T	XP_006711869.1:p.Val3881Leu
XM_006711807.2:c.11617G>T	XP_006711870.1:p.Val3873Leu
XM_006711807.3:c.11617G>T	XP_006711870.1:p.Val3873Leu
XM_006711808.2:c.11440G>T	XP_006711871.1:p.Val3814Leu
XM_006711808.3:c.11440G>T	XP_006711871.1:p.Val3814Leu
XM_006711810.2:c.11584G>T	XP_006711873.1:p.Val3862Leu
XM_006711810.3:c.11584G>T	XP_006711873.1:p.Val3862Leu
XM_017002028.1:c.11656G>T	XP_016857517.1:p.Val3886Leu