Canonical Allele Identifier: CA423821649

Gene: RYR2

Linked Data

• gnomAD v4: 1-237678094-A-G
• MyVariant Identifiers: chr1:g.237841394A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237678094A>G , CM000663.2:g.237678094A>G	GRCh38
NC_000001.10:g.237841394A>G , CM000663.1:g.237841394A>G	GRCh37
NC_000001.9:g.235908017A>G	NCBI36
NG_008799.2:g.640693A>G
NG_008799.3:g.640911A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.8831-2362A>G	ENSP00000499659.2:n.8831-2362A>G
ENST00000659194.3:c.8877A>G	ENSP00000499653.3:p.Glu2959=
ENST00000660292.2:c.8877A>G	ENSP00000499787.2:p.Glu2959=
ENST00000659194.2:c.1066A>G
ENST00000366574.7:c.8877A>G MANE Select	ENSP00000355533.2:p.Glu2959=
ENST00000659194.1:c.1066A>G
ENST00000360064.7:c.8829A>G	ENSP00000353174.7:p.Glu2943=
ENST00000366574.6:c.8877A>G	ENSP00000355533.2:p.Glu2959=
ENST00000609119.1:n.84-2362A>G
NM_001035.2:c.8877A>G	NP_001026.2:p.Glu2959=
XM_006711802.2:c.8907A>G	XP_006711865.1:p.Glu2969=
XM_006711803.2:c.8904A>G	XP_006711866.1:p.Glu2968=
XM_006711804.2:c.8907A>G	XP_006711867.1:p.Glu2969=
XM_006711805.2:c.8877A>G	XP_006711868.1:p.Glu2959=
XM_006711806.2:c.8907A>G	XP_006711869.1:p.Glu2969=
XM_006711807.2:c.8907A>G	XP_006711870.1:p.Glu2969=
XM_006711808.2:c.8860+3248A>G	XP_006711871.1:n.8860+3248A>G
XM_006711810.2:c.8874A>G	XP_006711873.1:p.Glu2958=
XR_949152.1:n.9188A>G
XM_006711802.3:c.8907A>G	XP_006711865.1:p.Glu2969=
XM_006711803.3:c.8904A>G	XP_006711866.1:p.Glu2968=
XM_006711804.3:c.8907A>G	XP_006711867.1:p.Glu2969=
XM_006711805.3:c.8877A>G	XP_006711868.1:p.Glu2959=
XM_006711806.3:c.8907A>G	XP_006711869.1:p.Glu2969=
XM_006711807.3:c.8907A>G	XP_006711870.1:p.Glu2969=
XM_006711808.3:c.8860+3248A>G	XP_006711871.1:n.8860+3248A>G
XM_006711810.3:c.8874A>G	XP_006711873.1:p.Glu2958=
XM_017002028.1:c.8886A>G	XP_016857517.1:p.Glu2962=
XR_949152.2:n.9221A>G
NM_001035.3:c.8877A>G MANE Select	NP_001026.2:p.Glu2959=