Canonical Allele Identifier: CA1144184409

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784003C= , CM000663.2:g.237784003C=	GRCh38
NC_000001.10:g.237947303C= , CM000663.1:g.237947303C=	GRCh37
NC_000001.9:g.236013926C=	NCBI36
NG_008799.2:g.746602C=
NG_008799.3:g.746820C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3383C=	ENSP00000499659.2:n.*3383C=
ENST00000659194.3:c.12279C=	ENSP00000499653.3:p.Asn4093=
ENST00000660292.2:c.12312C=	ENSP00000499787.2:p.Asn4104=
ENST00000659194.2:c.4468C=
ENST00000366574.7:c.12291C= MANE Select	ENSP00000355533.2:p.Asn4097=
ENST00000659194.1:c.4468C=
ENST00000660292.1:c.2344C=
ENST00000360064.7:c.12243C=	ENSP00000353174.7:p.Asn4081=
ENST00000366574.6:c.12291C=	ENSP00000355533.2:p.Asn4097=
ENST00000609119.1:n.3486C=
NM_001035.2:c.12291C=	NP_001026.2:p.Asn4097=
XM_006711802.2:c.12345C=	XP_006711865.1:p.Asn4115=
XM_006711803.2:c.12342C=	XP_006711866.1:p.Asn4114=
XM_006711804.2:c.12321C=	XP_006711867.1:p.Asn4107=
XM_006711805.2:c.12315C=	XP_006711868.1:p.Asn4105=
XM_006711806.2:c.12309C=	XP_006711869.1:p.Asn4103=
XM_006711807.2:c.12285C=	XP_006711870.1:p.Asn4095=
XM_006711808.2:c.12108C=	XP_006711871.1:p.Asn4036=
XM_006711810.2:c.12252C=	XP_006711873.1:p.Asn4084=
XM_006711802.3:c.12345C=	XP_006711865.1:p.Asn4115=
XM_006711803.3:c.12342C=	XP_006711866.1:p.Asn4114=
XM_006711804.3:c.12321C=	XP_006711867.1:p.Asn4107=
XM_006711805.3:c.12315C=	XP_006711868.1:p.Asn4105=
XM_006711806.3:c.12309C=	XP_006711869.1:p.Asn4103=
XM_006711807.3:c.12285C=	XP_006711870.1:p.Asn4095=
XM_006711808.3:c.12108C=	XP_006711871.1:p.Asn4036=
XM_006711810.3:c.12252C=	XP_006711873.1:p.Asn4084=
XM_017002028.1:c.12324C=	XP_016857517.1:p.Asn4108=
NM_001035.3:c.12291C= MANE Select	NP_001026.2:p.Asn4097=