Canonical Allele Identifier: CA424051744

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972299T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808999T>G , CM000663.2:g.237808999T>G	GRCh38
NC_000001.10:g.237972299T>G , CM000663.1:g.237972299T>G	GRCh37
NC_000001.9:g.236038922T>G	NCBI36
NG_008799.2:g.771598T>G
NG_008799.3:g.771816T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5489T>G	ENSP00000499659.2:n.*5489T>G
ENST00000659194.3:c.14379T>G	ENSP00000499653.3:p.Gly4793=
ENST00000660292.2:c.14418T>G	ENSP00000499787.2:p.Gly4806=
ENST00000659194.2:c.6568T>G
ENST00000366574.7:c.14397T>G MANE Select	ENSP00000355533.2:p.Gly4799=
ENST00000360064.7:c.14346T>G	ENSP00000353174.7:p.Gly4782=
ENST00000366574.6:c.14397T>G	ENSP00000355533.2:p.Gly4799=
ENST00000608590.5:n.908T>G
NM_001035.2:c.14397T>G	NP_001026.2:p.Gly4799=
XM_006711802.2:c.14451T>G	XP_006711865.1:p.Gly4817=
XM_006711803.2:c.14448T>G	XP_006711866.1:p.Gly4816=
XM_006711804.2:c.14427T>G	XP_006711867.1:p.Gly4809=
XM_006711805.2:c.14421T>G	XP_006711868.1:p.Gly4807=
XM_006711806.2:c.14415T>G	XP_006711869.1:p.Gly4805=
XM_006711807.2:c.14391T>G	XP_006711870.1:p.Gly4797=
XM_006711808.2:c.14214T>G	XP_006711871.1:p.Gly4738=
XM_006711810.2:c.14358T>G	XP_006711873.1:p.Gly4786=
XM_006711802.3:c.14451T>G	XP_006711865.1:p.Gly4817=
XM_006711803.3:c.14448T>G	XP_006711866.1:p.Gly4816=
XM_006711804.3:c.14427T>G	XP_006711867.1:p.Gly4809=
XM_006711805.3:c.14421T>G	XP_006711868.1:p.Gly4807=
XM_006711806.3:c.14415T>G	XP_006711869.1:p.Gly4805=
XM_006711807.3:c.14391T>G	XP_006711870.1:p.Gly4797=
XM_006711808.3:c.14214T>G	XP_006711871.1:p.Gly4738=
XM_006711810.3:c.14358T>G	XP_006711873.1:p.Gly4786=
XM_017002028.1:c.14430T>G	XP_016857517.1:p.Gly4810=
NM_001035.3:c.14397T>G MANE Select	NP_001026.2:p.Gly4799=