Canonical Allele Identifier: CA345413747

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947625C>T (hg19) ; chr1:g.237784325C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784325C>T , CM000663.2:g.237784325C>T	GRCh38
NC_000001.10:g.237947625C>T , CM000663.1:g.237947625C>T	GRCh37
NC_000001.9:g.236014248C>T	NCBI36
NG_008799.2:g.746924C>T
NG_008799.3:g.747142C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3705C>T	ENSP00000499659.2:n.*3705C>T
ENST00000659194.3:c.12601C>T	ENSP00000499653.3:p.Gln4201Ter
ENST00000660292.2:c.12634C>T	ENSP00000499787.2:p.Gln4212Ter
ENST00000659194.2:c.4790C>T
ENST00000366574.7:c.12613C>T MANE Select	ENSP00000355533.2:p.Gln4205Ter
ENST00000659194.1:c.4790C>T
ENST00000660292.1:c.2666C>T
ENST00000360064.7:c.12565C>T	ENSP00000353174.7:p.Gln4189Ter
ENST00000366574.6:c.12613C>T	ENSP00000355533.2:p.Gln4205Ter
ENST00000609119.1:n.3808C>T
NM_001035.2:c.12613C>T	NP_001026.2:p.Gln4205Ter
XM_006711802.2:c.12667C>T	XP_006711865.1:p.Gln4223Ter
XM_006711803.2:c.12664C>T	XP_006711866.1:p.Gln4222Ter
XM_006711804.2:c.12643C>T	XP_006711867.1:p.Gln4215Ter
XM_006711805.2:c.12637C>T	XP_006711868.1:p.Gln4213Ter
XM_006711806.2:c.12631C>T	XP_006711869.1:p.Gln4211Ter
XM_006711807.2:c.12607C>T	XP_006711870.1:p.Gln4203Ter
XM_006711808.2:c.12430C>T	XP_006711871.1:p.Gln4144Ter
XM_006711810.2:c.12574C>T	XP_006711873.1:p.Gln4192Ter
XM_006711802.3:c.12667C>T	XP_006711865.1:p.Gln4223Ter
XM_006711803.3:c.12664C>T	XP_006711866.1:p.Gln4222Ter
XM_006711804.3:c.12643C>T	XP_006711867.1:p.Gln4215Ter
XM_006711805.3:c.12637C>T	XP_006711868.1:p.Gln4213Ter
XM_006711806.3:c.12631C>T	XP_006711869.1:p.Gln4211Ter
XM_006711807.3:c.12607C>T	XP_006711870.1:p.Gln4203Ter
XM_006711808.3:c.12430C>T	XP_006711871.1:p.Gln4144Ter
XM_006711810.3:c.12574C>T	XP_006711873.1:p.Gln4192Ter
XM_017002028.1:c.12646C>T	XP_016857517.1:p.Gln4216Ter
NM_001035.3:c.12613C>T MANE Select	NP_001026.2:p.Gln4205Ter