Canonical Allele Identifier: CA2487493392

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808962A= , CM000663.2:g.237808962A=	GRCh38
NC_000001.10:g.237972262A= , CM000663.1:g.237972262A=	GRCh37
NC_000001.9:g.236038885A=	NCBI36
NG_008799.2:g.771561A=
NG_008799.3:g.771779A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5452A=	ENSP00000499659.2:n.*5452A=
ENST00000659194.3:c.14342A=	ENSP00000499653.3:p.Asn4781=
ENST00000660292.2:c.14381A=	ENSP00000499787.2:p.Asn4794=
ENST00000659194.2:c.6531A=
ENST00000366574.7:c.14360A= MANE Select	ENSP00000355533.2:p.Asn4787=
ENST00000360064.7:c.14309A=	ENSP00000353174.7:p.Asn4770=
ENST00000366574.6:c.14360A=	ENSP00000355533.2:p.Asn4787=
ENST00000608590.5:n.871A=
NM_001035.2:c.14360A=	NP_001026.2:p.Asn4787=
XM_006711802.2:c.14414A=	XP_006711865.1:p.Asn4805=
XM_006711803.2:c.14411A=	XP_006711866.1:p.Asn4804=
XM_006711804.2:c.14390A=	XP_006711867.1:p.Asn4797=
XM_006711805.2:c.14384A=	XP_006711868.1:p.Asn4795=
XM_006711806.2:c.14378A=	XP_006711869.1:p.Asn4793=
XM_006711807.2:c.14354A=	XP_006711870.1:p.Asn4785=
XM_006711808.2:c.14177A=	XP_006711871.1:p.Asn4726=
XM_006711810.2:c.14321A=	XP_006711873.1:p.Asn4774=
XM_006711802.3:c.14414A=	XP_006711865.1:p.Asn4805=
XM_006711803.3:c.14411A=	XP_006711866.1:p.Asn4804=
XM_006711804.3:c.14390A=	XP_006711867.1:p.Asn4797=
XM_006711805.3:c.14384A=	XP_006711868.1:p.Asn4795=
XM_006711806.3:c.14378A=	XP_006711869.1:p.Asn4793=
XM_006711807.3:c.14354A=	XP_006711870.1:p.Asn4785=
XM_006711808.3:c.14177A=	XP_006711871.1:p.Asn4726=
XM_006711810.3:c.14321A=	XP_006711873.1:p.Asn4774=
XM_017002028.1:c.14393A=	XP_016857517.1:p.Asn4798=
NM_001035.3:c.14360A= MANE Select	NP_001026.2:p.Asn4787=