Canonical Allele Identifier: CA424032122

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947312C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784012C>A , CM000663.2:g.237784012C>A	GRCh38
NC_000001.10:g.237947312C>A , CM000663.1:g.237947312C>A	GRCh37
NC_000001.9:g.236013935C>A	NCBI36
NG_008799.2:g.746611C>A
NG_008799.3:g.746829C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3392C>A	ENSP00000499659.2:n.*3392C>A
ENST00000659194.3:c.12288C>A	ENSP00000499653.3:p.Val4096=
ENST00000660292.2:c.12321C>A	ENSP00000499787.2:p.Val4107=
ENST00000659194.2:c.4477C>A
ENST00000366574.7:c.12300C>A MANE Select	ENSP00000355533.2:p.Val4100=
ENST00000659194.1:c.4477C>A
ENST00000660292.1:c.2353C>A
ENST00000360064.7:c.12252C>A	ENSP00000353174.7:p.Val4084=
ENST00000366574.6:c.12300C>A	ENSP00000355533.2:p.Val4100=
ENST00000609119.1:n.3495C>A
NM_001035.2:c.12300C>A	NP_001026.2:p.Val4100=
XM_006711802.2:c.12354C>A	XP_006711865.1:p.Val4118=
XM_006711803.2:c.12351C>A	XP_006711866.1:p.Val4117=
XM_006711804.2:c.12330C>A	XP_006711867.1:p.Val4110=
XM_006711805.2:c.12324C>A	XP_006711868.1:p.Val4108=
XM_006711806.2:c.12318C>A	XP_006711869.1:p.Val4106=
XM_006711807.2:c.12294C>A	XP_006711870.1:p.Val4098=
XM_006711808.2:c.12117C>A	XP_006711871.1:p.Val4039=
XM_006711810.2:c.12261C>A	XP_006711873.1:p.Val4087=
XM_006711802.3:c.12354C>A	XP_006711865.1:p.Val4118=
XM_006711803.3:c.12351C>A	XP_006711866.1:p.Val4117=
XM_006711804.3:c.12330C>A	XP_006711867.1:p.Val4110=
XM_006711805.3:c.12324C>A	XP_006711868.1:p.Val4108=
XM_006711806.3:c.12318C>A	XP_006711869.1:p.Val4106=
XM_006711807.3:c.12294C>A	XP_006711870.1:p.Val4098=
XM_006711808.3:c.12117C>A	XP_006711871.1:p.Val4039=
XM_006711810.3:c.12261C>A	XP_006711873.1:p.Val4087=
XM_017002028.1:c.12333C>A	XP_016857517.1:p.Val4111=
NM_001035.3:c.12300C>A MANE Select	NP_001026.2:p.Val4100=