Canonical Allele Identifier: CA2487493409

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809011T= , CM000663.2:g.237809011T=	GRCh38
NC_000001.10:g.237972311T= , CM000663.1:g.237972311T=	GRCh37
NC_000001.9:g.236038934T=	NCBI36
NG_008799.2:g.771610T=
NG_008799.3:g.771828T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5501T=	ENSP00000499659.2:n.*5501T=
ENST00000659194.3:c.14391T=	ENSP00000499653.3:p.Asp4797=
ENST00000660292.2:c.14430T=	ENSP00000499787.2:p.Asp4810=
ENST00000659194.2:c.6580T=
ENST00000366574.7:c.14409T= MANE Select	ENSP00000355533.2:p.Asp4803=
ENST00000360064.7:c.14358T=	ENSP00000353174.7:p.Asp4786=
ENST00000366574.6:c.14409T=	ENSP00000355533.2:p.Asp4803=
ENST00000608590.5:n.920T=
NM_001035.2:c.14409T=	NP_001026.2:p.Asp4803=
XM_006711802.2:c.14463T=	XP_006711865.1:p.Asp4821=
XM_006711803.2:c.14460T=	XP_006711866.1:p.Asp4820=
XM_006711804.2:c.14439T=	XP_006711867.1:p.Asp4813=
XM_006711805.2:c.14433T=	XP_006711868.1:p.Asp4811=
XM_006711806.2:c.14427T=	XP_006711869.1:p.Asp4809=
XM_006711807.2:c.14403T=	XP_006711870.1:p.Asp4801=
XM_006711808.2:c.14226T=	XP_006711871.1:p.Asp4742=
XM_006711810.2:c.14370T=	XP_006711873.1:p.Asp4790=
XM_006711802.3:c.14463T=	XP_006711865.1:p.Asp4821=
XM_006711803.3:c.14460T=	XP_006711866.1:p.Asp4820=
XM_006711804.3:c.14439T=	XP_006711867.1:p.Asp4813=
XM_006711805.3:c.14433T=	XP_006711868.1:p.Asp4811=
XM_006711806.3:c.14427T=	XP_006711869.1:p.Asp4809=
XM_006711807.3:c.14403T=	XP_006711870.1:p.Asp4801=
XM_006711808.3:c.14226T=	XP_006711871.1:p.Asp4742=
XM_006711810.3:c.14370T=	XP_006711873.1:p.Asp4790=
XM_017002028.1:c.14442T=	XP_016857517.1:p.Asp4814=
NM_001035.3:c.14409T= MANE Select	NP_001026.2:p.Asp4803=