Canonical Allele Identifier: CA345424615

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972334C>T (hg19) ; chr1:g.237809034C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809034C>T , CM000663.2:g.237809034C>T	GRCh38
NC_000001.10:g.237972334C>T , CM000663.1:g.237972334C>T	GRCh37
NC_000001.9:g.236038957C>T	NCBI36
NG_008799.2:g.771633C>T
NG_008799.3:g.771851C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5524C>T	ENSP00000499659.2:n.*5524C>T
ENST00000659194.3:c.14414C>T	ENSP00000499653.3:p.Thr4805Ile
ENST00000660292.2:c.14453C>T	ENSP00000499787.2:p.Thr4818Ile
ENST00000659194.2:c.6603C>T
ENST00000366574.7:c.14432C>T MANE Select	ENSP00000355533.2:p.Thr4811Ile
ENST00000360064.7:c.14381C>T	ENSP00000353174.7:p.Thr4794Ile
ENST00000366574.6:c.14432C>T	ENSP00000355533.2:p.Thr4811Ile
ENST00000608590.5:n.943C>T
NM_001035.2:c.14432C>T	NP_001026.2:p.Thr4811Ile
XM_006711802.2:c.14486C>T	XP_006711865.1:p.Thr4829Ile
XM_006711803.2:c.14483C>T	XP_006711866.1:p.Thr4828Ile
XM_006711804.2:c.14462C>T	XP_006711867.1:p.Thr4821Ile
XM_006711805.2:c.14456C>T	XP_006711868.1:p.Thr4819Ile
XM_006711806.2:c.14450C>T	XP_006711869.1:p.Thr4817Ile
XM_006711807.2:c.14426C>T	XP_006711870.1:p.Thr4809Ile
XM_006711808.2:c.14249C>T	XP_006711871.1:p.Thr4750Ile
XM_006711810.2:c.14393C>T	XP_006711873.1:p.Thr4798Ile
XM_006711802.3:c.14486C>T	XP_006711865.1:p.Thr4829Ile
XM_006711803.3:c.14483C>T	XP_006711866.1:p.Thr4828Ile
XM_006711804.3:c.14462C>T	XP_006711867.1:p.Thr4821Ile
XM_006711805.3:c.14456C>T	XP_006711868.1:p.Thr4819Ile
XM_006711806.3:c.14450C>T	XP_006711869.1:p.Thr4817Ile
XM_006711807.3:c.14426C>T	XP_006711870.1:p.Thr4809Ile
XM_006711808.3:c.14249C>T	XP_006711871.1:p.Thr4750Ile
XM_006711810.3:c.14393C>T	XP_006711873.1:p.Thr4798Ile
XM_017002028.1:c.14465C>T	XP_016857517.1:p.Thr4822Ile
NM_001035.3:c.14432C>T MANE Select	NP_001026.2:p.Thr4811Ile