Canonical Allele Identifier: CA345424607

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972333A>G (hg19) ; chr1:g.237809033A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809033A>G , CM000663.2:g.237809033A>G	GRCh38
NC_000001.10:g.237972333A>G , CM000663.1:g.237972333A>G	GRCh37
NC_000001.9:g.236038956A>G	NCBI36
NG_008799.2:g.771632A>G
NG_008799.3:g.771850A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5523A>G	ENSP00000499659.2:n.*5523A>G
ENST00000659194.3:c.14413A>G	ENSP00000499653.3:p.Thr4805Ala
ENST00000660292.2:c.14452A>G	ENSP00000499787.2:p.Thr4818Ala
ENST00000659194.2:c.6602A>G
ENST00000366574.7:c.14431A>G MANE Select	ENSP00000355533.2:p.Thr4811Ala
ENST00000360064.7:c.14380A>G	ENSP00000353174.7:p.Thr4794Ala
ENST00000366574.6:c.14431A>G	ENSP00000355533.2:p.Thr4811Ala
ENST00000608590.5:n.942A>G
NM_001035.2:c.14431A>G	NP_001026.2:p.Thr4811Ala
XM_006711802.2:c.14485A>G	XP_006711865.1:p.Thr4829Ala
XM_006711803.2:c.14482A>G	XP_006711866.1:p.Thr4828Ala
XM_006711804.2:c.14461A>G	XP_006711867.1:p.Thr4821Ala
XM_006711805.2:c.14455A>G	XP_006711868.1:p.Thr4819Ala
XM_006711806.2:c.14449A>G	XP_006711869.1:p.Thr4817Ala
XM_006711807.2:c.14425A>G	XP_006711870.1:p.Thr4809Ala
XM_006711808.2:c.14248A>G	XP_006711871.1:p.Thr4750Ala
XM_006711810.2:c.14392A>G	XP_006711873.1:p.Thr4798Ala
XM_006711802.3:c.14485A>G	XP_006711865.1:p.Thr4829Ala
XM_006711803.3:c.14482A>G	XP_006711866.1:p.Thr4828Ala
XM_006711804.3:c.14461A>G	XP_006711867.1:p.Thr4821Ala
XM_006711805.3:c.14455A>G	XP_006711868.1:p.Thr4819Ala
XM_006711806.3:c.14449A>G	XP_006711869.1:p.Thr4817Ala
XM_006711807.3:c.14425A>G	XP_006711870.1:p.Thr4809Ala
XM_006711808.3:c.14248A>G	XP_006711871.1:p.Thr4750Ala
XM_006711810.3:c.14392A>G	XP_006711873.1:p.Thr4798Ala
XM_017002028.1:c.14464A>G	XP_016857517.1:p.Thr4822Ala
NM_001035.3:c.14431A>G MANE Select	NP_001026.2:p.Thr4811Ala