Canonical Allele Identifier: CA345424053

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972219T>G (hg19) ; chr1:g.237808919T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808919T>G , CM000663.2:g.237808919T>G	GRCh38
NC_000001.10:g.237972219T>G , CM000663.1:g.237972219T>G	GRCh37
NC_000001.9:g.236038842T>G	NCBI36
NG_008799.2:g.771518T>G
NG_008799.3:g.771736T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5409T>G	ENSP00000499659.2:n.*5409T>G
ENST00000659194.3:c.14299T>G	ENSP00000499653.3:p.Leu4767Val
ENST00000660292.2:c.14338T>G	ENSP00000499787.2:p.Leu4780Val
ENST00000659194.2:c.6488T>G
ENST00000366574.7:c.14317T>G MANE Select	ENSP00000355533.2:p.Leu4773Val
ENST00000360064.7:c.14266T>G	ENSP00000353174.7:p.Leu4756Val
ENST00000366574.6:c.14317T>G	ENSP00000355533.2:p.Leu4773Val
ENST00000608590.5:n.828T>G
NM_001035.2:c.14317T>G	NP_001026.2:p.Leu4773Val
XM_006711802.2:c.14371T>G	XP_006711865.1:p.Leu4791Val
XM_006711803.2:c.14368T>G	XP_006711866.1:p.Leu4790Val
XM_006711804.2:c.14347T>G	XP_006711867.1:p.Leu4783Val
XM_006711805.2:c.14341T>G	XP_006711868.1:p.Leu4781Val
XM_006711806.2:c.14335T>G	XP_006711869.1:p.Leu4779Val
XM_006711807.2:c.14311T>G	XP_006711870.1:p.Leu4771Val
XM_006711808.2:c.14134T>G	XP_006711871.1:p.Leu4712Val
XM_006711810.2:c.14278T>G	XP_006711873.1:p.Leu4760Val
XM_006711802.3:c.14371T>G	XP_006711865.1:p.Leu4791Val
XM_006711803.3:c.14368T>G	XP_006711866.1:p.Leu4790Val
XM_006711804.3:c.14347T>G	XP_006711867.1:p.Leu4783Val
XM_006711805.3:c.14341T>G	XP_006711868.1:p.Leu4781Val
XM_006711806.3:c.14335T>G	XP_006711869.1:p.Leu4779Val
XM_006711807.3:c.14311T>G	XP_006711870.1:p.Leu4771Val
XM_006711808.3:c.14134T>G	XP_006711871.1:p.Leu4712Val
XM_006711810.3:c.14278T>G	XP_006711873.1:p.Leu4760Val
XM_017002028.1:c.14350T>G	XP_016857517.1:p.Leu4784Val
NM_001035.3:c.14317T>G MANE Select	NP_001026.2:p.Leu4773Val