Canonical Allele Identifier: CA345429420

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237828428G>A , CM000663.2:g.237828428G>A	GRCh38
NC_000001.10:g.237991728G>A , CM000663.1:g.237991728G>A	GRCh37
NC_000001.9:g.236058351G>A	NCBI36
NG_008799.2:g.791027G>A
NG_008799.3:g.791245G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14638G>A MANE Select	NP_001026.2:p.Val4880Ile
ENST00000366574.7:c.14638G>A MANE Select	ENSP00000355533.2:p.Val4880Ile
NM_001035.2:c.14638G>A	NP_001026.2:p.Val4880Ile
ENST00000360064.7:c.14587G>A	ENSP00000353174.7:p.Val4863Ile
ENST00000366574.6:c.14638G>A	ENSP00000355533.2:p.Val4880Ile
ENST00000608590.5:n.1149G>A
ENST00000609119.2:c.*5730G>A	ENSP00000499659.2:n.*5730G>A
ENST00000659194.2:c.6809G>A
ENST00000659194.3:c.14620G>A	ENSP00000499653.3:p.Val4874Ile
ENST00000660292.2:c.14659G>A	ENSP00000499787.2:p.Val4887Ile
XM_006711802.2:c.14692G>A	XP_006711865.1:p.Val4898Ile
XM_006711802.3:c.14692G>A	XP_006711865.1:p.Val4898Ile
XM_006711803.2:c.14689G>A	XP_006711866.1:p.Val4897Ile
XM_006711803.3:c.14689G>A	XP_006711866.1:p.Val4897Ile
XM_006711804.2:c.14668G>A	XP_006711867.1:p.Val4890Ile
XM_006711804.3:c.14668G>A	XP_006711867.1:p.Val4890Ile
XM_006711805.2:c.14662G>A	XP_006711868.1:p.Val4888Ile
XM_006711805.3:c.14662G>A	XP_006711868.1:p.Val4888Ile
XM_006711806.2:c.14656G>A	XP_006711869.1:p.Val4886Ile
XM_006711806.3:c.14656G>A	XP_006711869.1:p.Val4886Ile
XM_006711807.2:c.14632G>A	XP_006711870.1:p.Val4878Ile
XM_006711807.3:c.14632G>A	XP_006711870.1:p.Val4878Ile
XM_006711808.2:c.14455G>A	XP_006711871.1:p.Val4819Ile
XM_006711808.3:c.14455G>A	XP_006711871.1:p.Val4819Ile
XM_006711810.2:c.14599G>A	XP_006711873.1:p.Val4867Ile
XM_006711810.3:c.14599G>A	XP_006711873.1:p.Val4867Ile
XM_017002028.1:c.14671G>A	XP_016857517.1:p.Val4891Ile