Canonical Allele Identifier: CA085505

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237793984G>A , CM000663.2:g.237793984G>A	GRCh38
NC_000001.10:g.237957284G>A , CM000663.1:g.237957284G>A	GRCh37
NC_000001.9:g.236023907G>A	NCBI36
NG_008799.2:g.756583G>A
NG_008799.3:g.756801G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13900G>A MANE Select	NP_001026.2:p.Val4634Ile
ENST00000366574.7:c.13900G>A MANE Select	ENSP00000355533.2:p.Val4634Ile
NM_001035.2:c.13900G>A	NP_001026.2:p.Val4634Ile
ENST00000360064.7:c.13849G>A	ENSP00000353174.7:p.Val4617Ile
ENST00000366574.6:c.13900G>A	ENSP00000355533.2:p.Val4634Ile
ENST00000608590.5:n.411G>A
ENST00000609119.2:c.*4992G>A	ENSP00000499659.2:n.*4992G>A
ENST00000659194.2:c.6071G>A
ENST00000659194.3:c.13882G>A	ENSP00000499653.3:p.Val4628Ile
ENST00000660292.1:c.3953G>A
ENST00000660292.2:c.13921G>A	ENSP00000499787.2:p.Val4641Ile
XM_006711802.2:c.13954G>A	XP_006711865.1:p.Val4652Ile
XM_006711802.3:c.13954G>A	XP_006711865.1:p.Val4652Ile
XM_006711803.2:c.13951G>A	XP_006711866.1:p.Val4651Ile
XM_006711803.3:c.13951G>A	XP_006711866.1:p.Val4651Ile
XM_006711804.2:c.13930G>A	XP_006711867.1:p.Val4644Ile
XM_006711804.3:c.13930G>A	XP_006711867.1:p.Val4644Ile
XM_006711805.2:c.13924G>A	XP_006711868.1:p.Val4642Ile
XM_006711805.3:c.13924G>A	XP_006711868.1:p.Val4642Ile
XM_006711806.2:c.13918G>A	XP_006711869.1:p.Val4640Ile
XM_006711806.3:c.13918G>A	XP_006711869.1:p.Val4640Ile
XM_006711807.2:c.13894G>A	XP_006711870.1:p.Val4632Ile
XM_006711807.3:c.13894G>A	XP_006711870.1:p.Val4632Ile
XM_006711808.2:c.13717G>A	XP_006711871.1:p.Val4573Ile
XM_006711808.3:c.13717G>A	XP_006711871.1:p.Val4573Ile
XM_006711810.2:c.13861G>A	XP_006711873.1:p.Val4621Ile
XM_006711810.3:c.13861G>A	XP_006711873.1:p.Val4621Ile
XM_017002028.1:c.13933G>A	XP_016857517.1:p.Val4645Ile