Canonical Allele Identifier: CA424032227

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784429G>C , CM000663.2:g.237784429G>C	GRCh38
NC_000001.10:g.237947729G>C , CM000663.1:g.237947729G>C	GRCh37
NC_000001.9:g.236014352G>C	NCBI36
NG_008799.2:g.747028G>C
NG_008799.3:g.747246G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.12717G>C MANE Select	NP_001026.2:p.Leu4239=
ENST00000366574.7:c.12717G>C MANE Select	ENSP00000355533.2:p.Leu4239=
NM_001035.2:c.12717G>C	NP_001026.2:p.Leu4239=
ENST00000360064.7:c.12669G>C	ENSP00000353174.7:p.Leu4223=
ENST00000366574.6:c.12717G>C	ENSP00000355533.2:p.Leu4239=
ENST00000609119.1:n.3912G>C
ENST00000609119.2:c.*3809G>C	ENSP00000499659.2:n.*3809G>C
ENST00000659194.1:c.4894G>C
ENST00000659194.2:c.4894G>C
ENST00000659194.3:c.12705G>C	ENSP00000499653.3:p.Leu4235=
ENST00000660292.1:c.2770G>C
ENST00000660292.2:c.12738G>C	ENSP00000499787.2:p.Leu4246=
XM_006711802.2:c.12771G>C	XP_006711865.1:p.Leu4257=
XM_006711802.3:c.12771G>C	XP_006711865.1:p.Leu4257=
XM_006711803.2:c.12768G>C	XP_006711866.1:p.Leu4256=
XM_006711803.3:c.12768G>C	XP_006711866.1:p.Leu4256=
XM_006711804.2:c.12747G>C	XP_006711867.1:p.Leu4249=
XM_006711804.3:c.12747G>C	XP_006711867.1:p.Leu4249=
XM_006711805.2:c.12741G>C	XP_006711868.1:p.Leu4247=
XM_006711805.3:c.12741G>C	XP_006711868.1:p.Leu4247=
XM_006711806.2:c.12735G>C	XP_006711869.1:p.Leu4245=
XM_006711806.3:c.12735G>C	XP_006711869.1:p.Leu4245=
XM_006711807.2:c.12711G>C	XP_006711870.1:p.Leu4237=
XM_006711807.3:c.12711G>C	XP_006711870.1:p.Leu4237=
XM_006711808.2:c.12534G>C	XP_006711871.1:p.Leu4178=
XM_006711808.3:c.12534G>C	XP_006711871.1:p.Leu4178=
XM_006711810.2:c.12678G>C	XP_006711873.1:p.Leu4226=
XM_006711810.3:c.12678G>C	XP_006711873.1:p.Leu4226=
XM_017002028.1:c.12750G>C	XP_016857517.1:p.Leu4250=