Canonical Allele Identifier: CA2487482441

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784245A= , CM000663.2:g.237784245A=	GRCh38
NC_000001.10:g.237947545A= , CM000663.1:g.237947545A=	GRCh37
NC_000001.9:g.236014168A=	NCBI36
NG_008799.2:g.746844A=
NG_008799.3:g.747062A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3625A=	ENSP00000499659.2:n.*3625A=
ENST00000659194.3:c.12521A=	ENSP00000499653.3:p.Asn4174=
ENST00000660292.2:c.12554A=	ENSP00000499787.2:p.Asn4185=
ENST00000659194.2:c.4710A=
ENST00000366574.7:c.12533A= MANE Select	ENSP00000355533.2:p.Asn4178=
ENST00000659194.1:c.4710A=
ENST00000660292.1:c.2586A=
ENST00000360064.7:c.12485A=	ENSP00000353174.7:p.Asn4162=
ENST00000366574.6:c.12533A=	ENSP00000355533.2:p.Asn4178=
ENST00000609119.1:n.3728A=
NM_001035.2:c.12533A=	NP_001026.2:p.Asn4178=
XM_006711802.2:c.12587A=	XP_006711865.1:p.Asn4196=
XM_006711803.2:c.12584A=	XP_006711866.1:p.Asn4195=
XM_006711804.2:c.12563A=	XP_006711867.1:p.Asn4188=
XM_006711805.2:c.12557A=	XP_006711868.1:p.Asn4186=
XM_006711806.2:c.12551A=	XP_006711869.1:p.Asn4184=
XM_006711807.2:c.12527A=	XP_006711870.1:p.Asn4176=
XM_006711808.2:c.12350A=	XP_006711871.1:p.Asn4117=
XM_006711810.2:c.12494A=	XP_006711873.1:p.Asn4165=
XM_006711802.3:c.12587A=	XP_006711865.1:p.Asn4196=
XM_006711803.3:c.12584A=	XP_006711866.1:p.Asn4195=
XM_006711804.3:c.12563A=	XP_006711867.1:p.Asn4188=
XM_006711805.3:c.12557A=	XP_006711868.1:p.Asn4186=
XM_006711806.3:c.12551A=	XP_006711869.1:p.Asn4184=
XM_006711807.3:c.12527A=	XP_006711870.1:p.Asn4176=
XM_006711808.3:c.12350A=	XP_006711871.1:p.Asn4117=
XM_006711810.3:c.12494A=	XP_006711873.1:p.Asn4165=
XM_017002028.1:c.12566A=	XP_016857517.1:p.Asn4189=
NM_001035.3:c.12533A= MANE Select	NP_001026.2:p.Asn4178=