Canonical Allele Identifier: CA1141581398

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237819181C= , CM000663.2:g.237819181C=	GRCh38
NC_000001.10:g.237982481C= , CM000663.1:g.237982481C=	GRCh37
NC_000001.9:g.236049104C=	NCBI36
NG_008799.2:g.781780C=
NG_008799.3:g.781998C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5671C=	ENSP00000499659.2:n.*5671C=
ENST00000659194.3:c.14561C=	ENSP00000499653.3:p.Ala4854=
ENST00000660292.2:c.14600C=	ENSP00000499787.2:p.Ala4867=
ENST00000659194.2:c.6750C=
ENST00000366574.7:c.14579C= MANE Select	ENSP00000355533.2:p.Ala4860=
ENST00000360064.7:c.14528C=	ENSP00000353174.7:p.Ala4843=
ENST00000366574.6:c.14579C=	ENSP00000355533.2:p.Ala4860=
ENST00000608590.5:n.1090C=
NM_001035.2:c.14579C=	NP_001026.2:p.Ala4860=
XM_006711802.2:c.14633C=	XP_006711865.1:p.Ala4878=
XM_006711803.2:c.14630C=	XP_006711866.1:p.Ala4877=
XM_006711804.2:c.14609C=	XP_006711867.1:p.Ala4870=
XM_006711805.2:c.14603C=	XP_006711868.1:p.Ala4868=
XM_006711806.2:c.14597C=	XP_006711869.1:p.Ala4866=
XM_006711807.2:c.14573C=	XP_006711870.1:p.Ala4858=
XM_006711808.2:c.14396C=	XP_006711871.1:p.Ala4799=
XM_006711810.2:c.14540C=	XP_006711873.1:p.Ala4847=
XM_006711802.3:c.14633C=	XP_006711865.1:p.Ala4878=
XM_006711803.3:c.14630C=	XP_006711866.1:p.Ala4877=
XM_006711804.3:c.14609C=	XP_006711867.1:p.Ala4870=
XM_006711805.3:c.14603C=	XP_006711868.1:p.Ala4868=
XM_006711806.3:c.14597C=	XP_006711869.1:p.Ala4866=
XM_006711807.3:c.14573C=	XP_006711870.1:p.Ala4858=
XM_006711808.3:c.14396C=	XP_006711871.1:p.Ala4799=
XM_006711810.3:c.14540C=	XP_006711873.1:p.Ala4847=
XM_017002028.1:c.14612C=	XP_016857517.1:p.Ala4871=
NM_001035.3:c.14579C= MANE Select	NP_001026.2:p.Ala4860=