Canonical Allele Identifier: CA345398161

Gene: RYR2

Linked Data

• COSMIC: COSM398116
• MyVariant Identifiers: chr1:g.237811795A>G (hg19) ; chr1:g.237648495A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237648495A>G , CM000663.2:g.237648495A>G	GRCh38
NC_000001.10:g.237811795A>G , CM000663.1:g.237811795A>G	GRCh37
NC_000001.9:g.235878418A>G	NCBI36
NG_008799.2:g.611094A>G
NG_008799.3:g.611312A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.7394A>G	ENSP00000499659.2:p.Lys2465Arg
ENST00000659194.3:c.7394A>G	ENSP00000499653.3:p.Lys2465Arg
ENST00000660292.2:c.7394A>G	ENSP00000499787.2:p.Lys2465Arg
ENST00000366574.7:c.7394A>G MANE Select	ENSP00000355533.2:p.Lys2465Arg
ENST00000360064.7:c.7346A>G	ENSP00000353174.7:p.Lys2449Arg
ENST00000366574.6:c.7394A>G	ENSP00000355533.2:p.Lys2465Arg
NM_001035.2:c.7394A>G	NP_001026.2:p.Lys2465Arg
XM_006711802.2:c.7424A>G	XP_006711865.1:p.Lys2475Arg
XM_006711803.2:c.7421A>G	XP_006711866.1:p.Lys2474Arg
XM_006711804.2:c.7424A>G	XP_006711867.1:p.Lys2475Arg
XM_006711805.2:c.7394A>G	XP_006711868.1:p.Lys2465Arg
XM_006711806.2:c.7424A>G	XP_006711869.1:p.Lys2475Arg
XM_006711807.2:c.7424A>G	XP_006711870.1:p.Lys2475Arg
XM_006711808.2:c.7424A>G	XP_006711871.1:p.Lys2475Arg
XM_006711809.2:c.7424A>G	XP_006711872.1:p.Lys2475Arg
XM_006711810.2:c.7391A>G	XP_006711873.1:p.Lys2464Arg
XR_949152.1:n.7705A>G
XM_006711802.3:c.7424A>G	XP_006711865.1:p.Lys2475Arg
XM_006711803.3:c.7421A>G	XP_006711866.1:p.Lys2474Arg
XM_006711804.3:c.7424A>G	XP_006711867.1:p.Lys2475Arg
XM_006711805.3:c.7394A>G	XP_006711868.1:p.Lys2465Arg
XM_006711806.3:c.7424A>G	XP_006711869.1:p.Lys2475Arg
XM_006711807.3:c.7424A>G	XP_006711870.1:p.Lys2475Arg
XM_006711808.3:c.7424A>G	XP_006711871.1:p.Lys2475Arg
XM_006711810.3:c.7391A>G	XP_006711873.1:p.Lys2464Arg
XM_017002028.1:c.7403A>G	XP_016857517.1:p.Lys2468Arg
XR_002957299.1:n.7738A>G
XR_949152.2:n.7738A>G
NM_001035.3:c.7394A>G MANE Select	NP_001026.2:p.Lys2465Arg