Canonical Allele Identifier: CA345424385

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972288A>T (hg19) ; chr1:g.237808988A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808988A>T , CM000663.2:g.237808988A>T	GRCh38
NC_000001.10:g.237972288A>T , CM000663.1:g.237972288A>T	GRCh37
NC_000001.9:g.236038911A>T	NCBI36
NG_008799.2:g.771587A>T
NG_008799.3:g.771805A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5478A>T	ENSP00000499659.2:n.*5478A>T
ENST00000659194.3:c.14368A>T	ENSP00000499653.3:p.Ser4790Cys
ENST00000660292.2:c.14407A>T	ENSP00000499787.2:p.Ser4803Cys
ENST00000659194.2:c.6557A>T
ENST00000366574.7:c.14386A>T MANE Select	ENSP00000355533.2:p.Ser4796Cys
ENST00000360064.7:c.14335A>T	ENSP00000353174.7:p.Ser4779Cys
ENST00000366574.6:c.14386A>T	ENSP00000355533.2:p.Ser4796Cys
ENST00000608590.5:n.897A>T
NM_001035.2:c.14386A>T	NP_001026.2:p.Ser4796Cys
XM_006711802.2:c.14440A>T	XP_006711865.1:p.Ser4814Cys
XM_006711803.2:c.14437A>T	XP_006711866.1:p.Ser4813Cys
XM_006711804.2:c.14416A>T	XP_006711867.1:p.Ser4806Cys
XM_006711805.2:c.14410A>T	XP_006711868.1:p.Ser4804Cys
XM_006711806.2:c.14404A>T	XP_006711869.1:p.Ser4802Cys
XM_006711807.2:c.14380A>T	XP_006711870.1:p.Ser4794Cys
XM_006711808.2:c.14203A>T	XP_006711871.1:p.Ser4735Cys
XM_006711810.2:c.14347A>T	XP_006711873.1:p.Ser4783Cys
XM_006711802.3:c.14440A>T	XP_006711865.1:p.Ser4814Cys
XM_006711803.3:c.14437A>T	XP_006711866.1:p.Ser4813Cys
XM_006711804.3:c.14416A>T	XP_006711867.1:p.Ser4806Cys
XM_006711805.3:c.14410A>T	XP_006711868.1:p.Ser4804Cys
XM_006711806.3:c.14404A>T	XP_006711869.1:p.Ser4802Cys
XM_006711807.3:c.14380A>T	XP_006711870.1:p.Ser4794Cys
XM_006711808.3:c.14203A>T	XP_006711871.1:p.Ser4735Cys
XM_006711810.3:c.14347A>T	XP_006711873.1:p.Ser4783Cys
XM_017002028.1:c.14419A>T	XP_016857517.1:p.Ser4807Cys
NM_001035.3:c.14386A>T MANE Select	NP_001026.2:p.Ser4796Cys