Canonical Allele Identifier: CA424032178

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947357T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784057T>A , CM000663.2:g.237784057T>A	GRCh38
NC_000001.10:g.237947357T>A , CM000663.1:g.237947357T>A	GRCh37
NC_000001.9:g.236013980T>A	NCBI36
NG_008799.2:g.746656T>A
NG_008799.3:g.746874T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3437T>A	ENSP00000499659.2:n.*3437T>A
ENST00000659194.3:c.12333T>A	ENSP00000499653.3:p.Leu4111=
ENST00000660292.2:c.12366T>A	ENSP00000499787.2:p.Leu4122=
ENST00000659194.2:c.4522T>A
ENST00000366574.7:c.12345T>A MANE Select	ENSP00000355533.2:p.Leu4115=
ENST00000659194.1:c.4522T>A
ENST00000660292.1:c.2398T>A
ENST00000360064.7:c.12297T>A	ENSP00000353174.7:p.Leu4099=
ENST00000366574.6:c.12345T>A	ENSP00000355533.2:p.Leu4115=
ENST00000609119.1:n.3540T>A
NM_001035.2:c.12345T>A	NP_001026.2:p.Leu4115=
XM_006711802.2:c.12399T>A	XP_006711865.1:p.Leu4133=
XM_006711803.2:c.12396T>A	XP_006711866.1:p.Leu4132=
XM_006711804.2:c.12375T>A	XP_006711867.1:p.Leu4125=
XM_006711805.2:c.12369T>A	XP_006711868.1:p.Leu4123=
XM_006711806.2:c.12363T>A	XP_006711869.1:p.Leu4121=
XM_006711807.2:c.12339T>A	XP_006711870.1:p.Leu4113=
XM_006711808.2:c.12162T>A	XP_006711871.1:p.Leu4054=
XM_006711810.2:c.12306T>A	XP_006711873.1:p.Leu4102=
XM_006711802.3:c.12399T>A	XP_006711865.1:p.Leu4133=
XM_006711803.3:c.12396T>A	XP_006711866.1:p.Leu4132=
XM_006711804.3:c.12375T>A	XP_006711867.1:p.Leu4125=
XM_006711805.3:c.12369T>A	XP_006711868.1:p.Leu4123=
XM_006711806.3:c.12363T>A	XP_006711869.1:p.Leu4121=
XM_006711807.3:c.12339T>A	XP_006711870.1:p.Leu4113=
XM_006711808.3:c.12162T>A	XP_006711871.1:p.Leu4054=
XM_006711810.3:c.12306T>A	XP_006711873.1:p.Leu4102=
XM_017002028.1:c.12378T>A	XP_016857517.1:p.Leu4126=
NM_001035.3:c.12345T>A MANE Select	NP_001026.2:p.Leu4115=