Canonical Allele Identifier: CA2487501693

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237828413G= , CM000663.2:g.237828413G=	GRCh38
NC_000001.10:g.237991713G= , CM000663.1:g.237991713G=	GRCh37
NC_000001.9:g.236058336G=	NCBI36
NG_008799.2:g.791012G=
NG_008799.3:g.791230G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5715G=	ENSP00000499659.2:n.*5715G=
ENST00000659194.3:c.14605G=	ENSP00000499653.3:p.Asp4869=
ENST00000660292.2:c.14644G=	ENSP00000499787.2:p.Asp4882=
ENST00000659194.2:c.6794G=
ENST00000366574.7:c.14623G= MANE Select	ENSP00000355533.2:p.Asp4875=
ENST00000360064.7:c.14572G=	ENSP00000353174.7:p.Asp4858=
ENST00000366574.6:c.14623G=	ENSP00000355533.2:p.Asp4875=
ENST00000608590.5:n.1134G=
NM_001035.2:c.14623G=	NP_001026.2:p.Asp4875=
XM_006711802.2:c.14677G=	XP_006711865.1:p.Asp4893=
XM_006711803.2:c.14674G=	XP_006711866.1:p.Asp4892=
XM_006711804.2:c.14653G=	XP_006711867.1:p.Asp4885=
XM_006711805.2:c.14647G=	XP_006711868.1:p.Asp4883=
XM_006711806.2:c.14641G=	XP_006711869.1:p.Asp4881=
XM_006711807.2:c.14617G=	XP_006711870.1:p.Asp4873=
XM_006711808.2:c.14440G=	XP_006711871.1:p.Asp4814=
XM_006711810.2:c.14584G=	XP_006711873.1:p.Asp4862=
XM_006711802.3:c.14677G=	XP_006711865.1:p.Asp4893=
XM_006711803.3:c.14674G=	XP_006711866.1:p.Asp4892=
XM_006711804.3:c.14653G=	XP_006711867.1:p.Asp4885=
XM_006711805.3:c.14647G=	XP_006711868.1:p.Asp4883=
XM_006711806.3:c.14641G=	XP_006711869.1:p.Asp4881=
XM_006711807.3:c.14617G=	XP_006711870.1:p.Asp4873=
XM_006711808.3:c.14440G=	XP_006711871.1:p.Asp4814=
XM_006711810.3:c.14584G=	XP_006711873.1:p.Asp4862=
XM_017002028.1:c.14656G=	XP_016857517.1:p.Asp4886=
NM_001035.3:c.14623G= MANE Select	NP_001026.2:p.Asp4875=