Canonical Allele Identifier: CA345413555

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947539T>G (hg19) ; chr1:g.237784239T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784239T>G , CM000663.2:g.237784239T>G	GRCh38
NC_000001.10:g.237947539T>G , CM000663.1:g.237947539T>G	GRCh37
NC_000001.9:g.236014162T>G	NCBI36
NG_008799.2:g.746838T>G
NG_008799.3:g.747056T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3619T>G	ENSP00000499659.2:n.*3619T>G
ENST00000659194.3:c.12515T>G	ENSP00000499653.3:p.Val4172Gly
ENST00000660292.2:c.12548T>G	ENSP00000499787.2:p.Val4183Gly
ENST00000659194.2:c.4704T>G
ENST00000366574.7:c.12527T>G MANE Select	ENSP00000355533.2:p.Val4176Gly
ENST00000659194.1:c.4704T>G
ENST00000660292.1:c.2580T>G
ENST00000360064.7:c.12479T>G	ENSP00000353174.7:p.Val4160Gly
ENST00000366574.6:c.12527T>G	ENSP00000355533.2:p.Val4176Gly
ENST00000609119.1:n.3722T>G
NM_001035.2:c.12527T>G	NP_001026.2:p.Val4176Gly
XM_006711802.2:c.12581T>G	XP_006711865.1:p.Val4194Gly
XM_006711803.2:c.12578T>G	XP_006711866.1:p.Val4193Gly
XM_006711804.2:c.12557T>G	XP_006711867.1:p.Val4186Gly
XM_006711805.2:c.12551T>G	XP_006711868.1:p.Val4184Gly
XM_006711806.2:c.12545T>G	XP_006711869.1:p.Val4182Gly
XM_006711807.2:c.12521T>G	XP_006711870.1:p.Val4174Gly
XM_006711808.2:c.12344T>G	XP_006711871.1:p.Val4115Gly
XM_006711810.2:c.12488T>G	XP_006711873.1:p.Val4163Gly
XM_006711802.3:c.12581T>G	XP_006711865.1:p.Val4194Gly
XM_006711803.3:c.12578T>G	XP_006711866.1:p.Val4193Gly
XM_006711804.3:c.12557T>G	XP_006711867.1:p.Val4186Gly
XM_006711805.3:c.12551T>G	XP_006711868.1:p.Val4184Gly
XM_006711806.3:c.12545T>G	XP_006711869.1:p.Val4182Gly
XM_006711807.3:c.12521T>G	XP_006711870.1:p.Val4174Gly
XM_006711808.3:c.12344T>G	XP_006711871.1:p.Val4115Gly
XM_006711810.3:c.12488T>G	XP_006711873.1:p.Val4163Gly
XM_017002028.1:c.12560T>G	XP_016857517.1:p.Val4187Gly
NM_001035.3:c.12527T>G MANE Select	NP_001026.2:p.Val4176Gly