Canonical Allele Identifier: CA345413676

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947593A>G (hg19) ; chr1:g.237784293A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784293A>G , CM000663.2:g.237784293A>G	GRCh38
NC_000001.10:g.237947593A>G , CM000663.1:g.237947593A>G	GRCh37
NC_000001.9:g.236014216A>G	NCBI36
NG_008799.2:g.746892A>G
NG_008799.3:g.747110A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3673A>G	ENSP00000499659.2:n.*3673A>G
ENST00000659194.3:c.12569A>G	ENSP00000499653.3:p.Glu4190Gly
ENST00000660292.2:c.12602A>G	ENSP00000499787.2:p.Glu4201Gly
ENST00000659194.2:c.4758A>G
ENST00000366574.7:c.12581A>G MANE Select	ENSP00000355533.2:p.Glu4194Gly
ENST00000659194.1:c.4758A>G
ENST00000660292.1:c.2634A>G
ENST00000360064.7:c.12533A>G	ENSP00000353174.7:p.Glu4178Gly
ENST00000366574.6:c.12581A>G	ENSP00000355533.2:p.Glu4194Gly
ENST00000609119.1:n.3776A>G
NM_001035.2:c.12581A>G	NP_001026.2:p.Glu4194Gly
XM_006711802.2:c.12635A>G	XP_006711865.1:p.Glu4212Gly
XM_006711803.2:c.12632A>G	XP_006711866.1:p.Glu4211Gly
XM_006711804.2:c.12611A>G	XP_006711867.1:p.Glu4204Gly
XM_006711805.2:c.12605A>G	XP_006711868.1:p.Glu4202Gly
XM_006711806.2:c.12599A>G	XP_006711869.1:p.Glu4200Gly
XM_006711807.2:c.12575A>G	XP_006711870.1:p.Glu4192Gly
XM_006711808.2:c.12398A>G	XP_006711871.1:p.Glu4133Gly
XM_006711810.2:c.12542A>G	XP_006711873.1:p.Glu4181Gly
XM_006711802.3:c.12635A>G	XP_006711865.1:p.Glu4212Gly
XM_006711803.3:c.12632A>G	XP_006711866.1:p.Glu4211Gly
XM_006711804.3:c.12611A>G	XP_006711867.1:p.Glu4204Gly
XM_006711805.3:c.12605A>G	XP_006711868.1:p.Glu4202Gly
XM_006711806.3:c.12599A>G	XP_006711869.1:p.Glu4200Gly
XM_006711807.3:c.12575A>G	XP_006711870.1:p.Glu4192Gly
XM_006711808.3:c.12398A>G	XP_006711871.1:p.Glu4133Gly
XM_006711810.3:c.12542A>G	XP_006711873.1:p.Glu4181Gly
XM_017002028.1:c.12614A>G	XP_016857517.1:p.Glu4205Gly
NM_001035.3:c.12581A>G MANE Select	NP_001026.2:p.Glu4194Gly