Canonical Allele Identifier: CA345424470

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972306C>A (hg19) ; chr1:g.237809006C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809006C>A , CM000663.2:g.237809006C>A	GRCh38
NC_000001.10:g.237972306C>A , CM000663.1:g.237972306C>A	GRCh37
NC_000001.9:g.236038929C>A	NCBI36
NG_008799.2:g.771605C>A
NG_008799.3:g.771823C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5496C>A	ENSP00000499659.2:n.*5496C>A
ENST00000659194.3:c.14386C>A	ENSP00000499653.3:p.Pro4796Thr
ENST00000660292.2:c.14425C>A	ENSP00000499787.2:p.Pro4809Thr
ENST00000659194.2:c.6575C>A
ENST00000366574.7:c.14404C>A MANE Select	ENSP00000355533.2:p.Pro4802Thr
ENST00000360064.7:c.14353C>A	ENSP00000353174.7:p.Pro4785Thr
ENST00000366574.6:c.14404C>A	ENSP00000355533.2:p.Pro4802Thr
ENST00000608590.5:n.915C>A
NM_001035.2:c.14404C>A	NP_001026.2:p.Pro4802Thr
XM_006711802.2:c.14458C>A	XP_006711865.1:p.Pro4820Thr
XM_006711803.2:c.14455C>A	XP_006711866.1:p.Pro4819Thr
XM_006711804.2:c.14434C>A	XP_006711867.1:p.Pro4812Thr
XM_006711805.2:c.14428C>A	XP_006711868.1:p.Pro4810Thr
XM_006711806.2:c.14422C>A	XP_006711869.1:p.Pro4808Thr
XM_006711807.2:c.14398C>A	XP_006711870.1:p.Pro4800Thr
XM_006711808.2:c.14221C>A	XP_006711871.1:p.Pro4741Thr
XM_006711810.2:c.14365C>A	XP_006711873.1:p.Pro4789Thr
XM_006711802.3:c.14458C>A	XP_006711865.1:p.Pro4820Thr
XM_006711803.3:c.14455C>A	XP_006711866.1:p.Pro4819Thr
XM_006711804.3:c.14434C>A	XP_006711867.1:p.Pro4812Thr
XM_006711805.3:c.14428C>A	XP_006711868.1:p.Pro4810Thr
XM_006711806.3:c.14422C>A	XP_006711869.1:p.Pro4808Thr
XM_006711807.3:c.14398C>A	XP_006711870.1:p.Pro4800Thr
XM_006711808.3:c.14221C>A	XP_006711871.1:p.Pro4741Thr
XM_006711810.3:c.14365C>A	XP_006711873.1:p.Pro4789Thr
XM_017002028.1:c.14437C>A	XP_016857517.1:p.Pro4813Thr
NM_001035.3:c.14404C>A MANE Select	NP_001026.2:p.Pro4802Thr