Canonical Allele Identifier: CA1143325881

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784043A= , CM000663.2:g.237784043A=	GRCh38
NC_000001.10:g.237947343A= , CM000663.1:g.237947343A=	GRCh37
NC_000001.9:g.236013966A=	NCBI36
NG_008799.2:g.746642A=
NG_008799.3:g.746860A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3423A=	ENSP00000499659.2:n.*3423A=
ENST00000659194.3:c.12319A=	ENSP00000499653.3:p.Asn4107=
ENST00000660292.2:c.12352A=	ENSP00000499787.2:p.Asn4118=
ENST00000659194.2:c.4508A=
ENST00000366574.7:c.12331A= MANE Select	ENSP00000355533.2:p.Asn4111=
ENST00000659194.1:c.4508A=
ENST00000660292.1:c.2384A=
ENST00000360064.7:c.12283A=	ENSP00000353174.7:p.Asn4095=
ENST00000366574.6:c.12331A=	ENSP00000355533.2:p.Asn4111=
ENST00000609119.1:n.3526A=
NM_001035.2:c.12331A=	NP_001026.2:p.Asn4111=
XM_006711802.2:c.12385A=	XP_006711865.1:p.Asn4129=
XM_006711803.2:c.12382A=	XP_006711866.1:p.Asn4128=
XM_006711804.2:c.12361A=	XP_006711867.1:p.Asn4121=
XM_006711805.2:c.12355A=	XP_006711868.1:p.Asn4119=
XM_006711806.2:c.12349A=	XP_006711869.1:p.Asn4117=
XM_006711807.2:c.12325A=	XP_006711870.1:p.Asn4109=
XM_006711808.2:c.12148A=	XP_006711871.1:p.Asn4050=
XM_006711810.2:c.12292A=	XP_006711873.1:p.Asn4098=
XM_006711802.3:c.12385A=	XP_006711865.1:p.Asn4129=
XM_006711803.3:c.12382A=	XP_006711866.1:p.Asn4128=
XM_006711804.3:c.12361A=	XP_006711867.1:p.Asn4121=
XM_006711805.3:c.12355A=	XP_006711868.1:p.Asn4119=
XM_006711806.3:c.12349A=	XP_006711869.1:p.Asn4117=
XM_006711807.3:c.12325A=	XP_006711870.1:p.Asn4109=
XM_006711808.3:c.12148A=	XP_006711871.1:p.Asn4050=
XM_006711810.3:c.12292A=	XP_006711873.1:p.Asn4098=
XM_017002028.1:c.12364A=	XP_016857517.1:p.Asn4122=
NM_001035.3:c.12331A= MANE Select	NP_001026.2:p.Asn4111=