Canonical Allele Identifier: CA424032131

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947411G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784111G>C , CM000663.2:g.237784111G>C	GRCh38
NC_000001.10:g.237947411G>C , CM000663.1:g.237947411G>C	GRCh37
NC_000001.9:g.236014034G>C	NCBI36
NG_008799.2:g.746710G>C
NG_008799.3:g.746928G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3491G>C	ENSP00000499659.2:n.*3491G>C
ENST00000659194.3:c.12387G>C	ENSP00000499653.3:p.Leu4129=
ENST00000660292.2:c.12420G>C	ENSP00000499787.2:p.Leu4140=
ENST00000659194.2:c.4576G>C
ENST00000366574.7:c.12399G>C MANE Select	ENSP00000355533.2:p.Leu4133=
ENST00000659194.1:c.4576G>C
ENST00000660292.1:c.2452G>C
ENST00000360064.7:c.12351G>C	ENSP00000353174.7:p.Leu4117=
ENST00000366574.6:c.12399G>C	ENSP00000355533.2:p.Leu4133=
ENST00000609119.1:n.3594G>C
NM_001035.2:c.12399G>C	NP_001026.2:p.Leu4133=
XM_006711802.2:c.12453G>C	XP_006711865.1:p.Leu4151=
XM_006711803.2:c.12450G>C	XP_006711866.1:p.Leu4150=
XM_006711804.2:c.12429G>C	XP_006711867.1:p.Leu4143=
XM_006711805.2:c.12423G>C	XP_006711868.1:p.Leu4141=
XM_006711806.2:c.12417G>C	XP_006711869.1:p.Leu4139=
XM_006711807.2:c.12393G>C	XP_006711870.1:p.Leu4131=
XM_006711808.2:c.12216G>C	XP_006711871.1:p.Leu4072=
XM_006711810.2:c.12360G>C	XP_006711873.1:p.Leu4120=
XM_006711802.3:c.12453G>C	XP_006711865.1:p.Leu4151=
XM_006711803.3:c.12450G>C	XP_006711866.1:p.Leu4150=
XM_006711804.3:c.12429G>C	XP_006711867.1:p.Leu4143=
XM_006711805.3:c.12423G>C	XP_006711868.1:p.Leu4141=
XM_006711806.3:c.12417G>C	XP_006711869.1:p.Leu4139=
XM_006711807.3:c.12393G>C	XP_006711870.1:p.Leu4131=
XM_006711808.3:c.12216G>C	XP_006711871.1:p.Leu4072=
XM_006711810.3:c.12360G>C	XP_006711873.1:p.Leu4120=
XM_017002028.1:c.12432G>C	XP_016857517.1:p.Leu4144=
NM_001035.3:c.12399G>C MANE Select	NP_001026.2:p.Leu4133=