Canonical Allele Identifier: CA423821318

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237742322T>C , CM000663.2:g.237742322T>C	GRCh38
NC_000001.10:g.237905622T>C , CM000663.1:g.237905622T>C	GRCh37
NC_000001.9:g.235972245T>C	NCBI36
NG_008799.2:g.704921T>C
NG_008799.3:g.705139T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.11118T>C MANE Select	NP_001026.2:p.Asp3706=
ENST00000366574.7:c.11118T>C MANE Select	ENSP00000355533.2:p.Asp3706=
NM_001035.2:c.11118T>C	NP_001026.2:p.Asp3706=
ENST00000360064.7:c.11070T>C	ENSP00000353174.7:p.Asp3690=
ENST00000366574.6:c.11118T>C	ENSP00000355533.2:p.Asp3706=
ENST00000609119.1:n.2256T>C
ENST00000609119.2:c.*2153T>C	ENSP00000499659.2:n.*2153T>C
ENST00000659194.1:c.3271T>C
ENST00000659194.2:c.3271T>C
ENST00000659194.3:c.11082T>C	ENSP00000499653.3:p.Asp3694=
ENST00000660292.1:c.1114T>C
ENST00000660292.2:c.11082T>C	ENSP00000499787.2:p.Asp3694=
ENST00000661330.1:c.925T>C
XM_006711802.2:c.11148T>C	XP_006711865.1:p.Asp3716=
XM_006711802.3:c.11148T>C	XP_006711865.1:p.Asp3716=
XM_006711803.2:c.11145T>C	XP_006711866.1:p.Asp3715=
XM_006711803.3:c.11145T>C	XP_006711866.1:p.Asp3715=
XM_006711804.2:c.11148T>C	XP_006711867.1:p.Asp3716=
XM_006711804.3:c.11148T>C	XP_006711867.1:p.Asp3716=
XM_006711805.2:c.11118T>C	XP_006711868.1:p.Asp3706=
XM_006711805.3:c.11118T>C	XP_006711868.1:p.Asp3706=
XM_006711806.2:c.11112T>C	XP_006711869.1:p.Asp3704=
XM_006711806.3:c.11112T>C	XP_006711869.1:p.Asp3704=
XM_006711807.2:c.11112T>C	XP_006711870.1:p.Asp3704=
XM_006711807.3:c.11112T>C	XP_006711870.1:p.Asp3704=
XM_006711808.2:c.10911T>C	XP_006711871.1:p.Asp3637=
XM_006711808.3:c.10911T>C	XP_006711871.1:p.Asp3637=
XM_006711810.2:c.11079T>C	XP_006711873.1:p.Asp3693=
XM_006711810.3:c.11079T>C	XP_006711873.1:p.Asp3693=
XM_017002028.1:c.11127T>C	XP_016857517.1:p.Asp3709=