Canonical Allele Identifier: CA345401339

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237660000A>G , CM000663.2:g.237660000A>G	GRCh38
NC_000001.10:g.237823300A>G , CM000663.1:g.237823300A>G	GRCh37
NC_000001.9:g.235889923A>G	NCBI36
NG_008799.2:g.622599A>G
NG_008799.3:g.622817A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.8224A>G MANE Select	NP_001026.2:p.Ile2742Val
ENST00000366574.7:c.8224A>G MANE Select	ENSP00000355533.2:p.Ile2742Val
NM_001035.2:c.8224A>G	NP_001026.2:p.Ile2742Val
ENST00000360064.7:c.8176A>G	ENSP00000353174.7:p.Ile2726Val
ENST00000366574.6:c.8224A>G	ENSP00000355533.2:p.Ile2742Val
ENST00000609119.2:c.8224A>G	ENSP00000499659.2:p.Ile2742Val
ENST00000659194.1:c.413A>G
ENST00000659194.2:c.413A>G
ENST00000659194.3:c.8224A>G	ENSP00000499653.3:p.Ile2742Val
ENST00000660292.2:c.8224A>G	ENSP00000499787.2:p.Ile2742Val
XM_006711802.2:c.8254A>G	XP_006711865.1:p.Ile2752Val
XM_006711802.3:c.8254A>G	XP_006711865.1:p.Ile2752Val
XM_006711803.2:c.8251A>G	XP_006711866.1:p.Ile2751Val
XM_006711803.3:c.8251A>G	XP_006711866.1:p.Ile2751Val
XM_006711804.2:c.8254A>G	XP_006711867.1:p.Ile2752Val
XM_006711804.3:c.8254A>G	XP_006711867.1:p.Ile2752Val
XM_006711805.2:c.8224A>G	XP_006711868.1:p.Ile2742Val
XM_006711805.3:c.8224A>G	XP_006711868.1:p.Ile2742Val
XM_006711806.2:c.8254A>G	XP_006711869.1:p.Ile2752Val
XM_006711806.3:c.8254A>G	XP_006711869.1:p.Ile2752Val
XM_006711807.2:c.8254A>G	XP_006711870.1:p.Ile2752Val
XM_006711807.3:c.8254A>G	XP_006711870.1:p.Ile2752Val
XM_006711808.2:c.8254A>G	XP_006711871.1:p.Ile2752Val
XM_006711808.3:c.8254A>G	XP_006711871.1:p.Ile2752Val
XM_006711810.2:c.8221A>G	XP_006711873.1:p.Ile2741Val
XM_006711810.3:c.8221A>G	XP_006711873.1:p.Ile2741Val
XM_017002028.1:c.8233A>G	XP_016857517.1:p.Ile2745Val
XR_002957299.1:n.8635A>G
XR_949152.1:n.8535A>G
XR_949152.2:n.8568A>G