Canonical Allele Identifier: CA2487482357

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784023A= , CM000663.2:g.237784023A=	GRCh38
NC_000001.10:g.237947323A= , CM000663.1:g.237947323A=	GRCh37
NC_000001.9:g.236013946A=	NCBI36
NG_008799.2:g.746622A=
NG_008799.3:g.746840A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3403A=	ENSP00000499659.2:n.*3403A=
ENST00000659194.3:c.12299A=	ENSP00000499653.3:p.Asn4100=
ENST00000660292.2:c.12332A=	ENSP00000499787.2:p.Asn4111=
ENST00000659194.2:c.4488A=
ENST00000366574.7:c.12311A= MANE Select	ENSP00000355533.2:p.Asn4104=
ENST00000659194.1:c.4488A=
ENST00000660292.1:c.2364A=
ENST00000360064.7:c.12263A=	ENSP00000353174.7:p.Asn4088=
ENST00000366574.6:c.12311A=	ENSP00000355533.2:p.Asn4104=
ENST00000609119.1:n.3506A=
NM_001035.2:c.12311A=	NP_001026.2:p.Asn4104=
XM_006711802.2:c.12365A=	XP_006711865.1:p.Asn4122=
XM_006711803.2:c.12362A=	XP_006711866.1:p.Asn4121=
XM_006711804.2:c.12341A=	XP_006711867.1:p.Asn4114=
XM_006711805.2:c.12335A=	XP_006711868.1:p.Asn4112=
XM_006711806.2:c.12329A=	XP_006711869.1:p.Asn4110=
XM_006711807.2:c.12305A=	XP_006711870.1:p.Asn4102=
XM_006711808.2:c.12128A=	XP_006711871.1:p.Asn4043=
XM_006711810.2:c.12272A=	XP_006711873.1:p.Asn4091=
XM_006711802.3:c.12365A=	XP_006711865.1:p.Asn4122=
XM_006711803.3:c.12362A=	XP_006711866.1:p.Asn4121=
XM_006711804.3:c.12341A=	XP_006711867.1:p.Asn4114=
XM_006711805.3:c.12335A=	XP_006711868.1:p.Asn4112=
XM_006711806.3:c.12329A=	XP_006711869.1:p.Asn4110=
XM_006711807.3:c.12305A=	XP_006711870.1:p.Asn4102=
XM_006711808.3:c.12128A=	XP_006711871.1:p.Asn4043=
XM_006711810.3:c.12272A=	XP_006711873.1:p.Asn4091=
XM_017002028.1:c.12344A=	XP_016857517.1:p.Asn4115=
NM_001035.3:c.12311A= MANE Select	NP_001026.2:p.Asn4104=