Canonical Allele Identifier: CA345424047

Gene: RYR2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5409T>A	ENSP00000499659.2:n.*5409T>A
ENST00000659194.3:c.14299T>A	ENSP00000499653.3:p.Leu4767Ile
ENST00000660292.2:c.14338T>A	ENSP00000499787.2:p.Leu4780Ile
ENST00000659194.2:c.6488T>A
ENST00000366574.7:c.14317T>A MANE Select	ENSP00000355533.2:p.Leu4773Ile
ENST00000360064.7:c.14266T>A	ENSP00000353174.7:p.Leu4756Ile
ENST00000366574.6:c.14317T>A	ENSP00000355533.2:p.Leu4773Ile
ENST00000608590.5:n.828T>A
NM_001035.2:c.14317T>A	NP_001026.2:p.Leu4773Ile
XM_006711802.2:c.14371T>A	XP_006711865.1:p.Leu4791Ile
XM_006711803.2:c.14368T>A	XP_006711866.1:p.Leu4790Ile
XM_006711804.2:c.14347T>A	XP_006711867.1:p.Leu4783Ile
XM_006711805.2:c.14341T>A	XP_006711868.1:p.Leu4781Ile
XM_006711806.2:c.14335T>A	XP_006711869.1:p.Leu4779Ile
XM_006711807.2:c.14311T>A	XP_006711870.1:p.Leu4771Ile
XM_006711808.2:c.14134T>A	XP_006711871.1:p.Leu4712Ile
XM_006711810.2:c.14278T>A	XP_006711873.1:p.Leu4760Ile
XM_006711802.3:c.14371T>A	XP_006711865.1:p.Leu4791Ile
XM_006711803.3:c.14368T>A	XP_006711866.1:p.Leu4790Ile
XM_006711804.3:c.14347T>A	XP_006711867.1:p.Leu4783Ile
XM_006711805.3:c.14341T>A	XP_006711868.1:p.Leu4781Ile
XM_006711806.3:c.14335T>A	XP_006711869.1:p.Leu4779Ile
XM_006711807.3:c.14311T>A	XP_006711870.1:p.Leu4771Ile
XM_006711808.3:c.14134T>A	XP_006711871.1:p.Leu4712Ile
XM_006711810.3:c.14278T>A	XP_006711873.1:p.Leu4760Ile
XM_017002028.1:c.14350T>A	XP_016857517.1:p.Leu4784Ile
NM_001035.3:c.14317T>A MANE Select	NP_001026.2:p.Leu4773Ile