Canonical Allele Identifier: CA423827471

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237792275G>A , CM000663.2:g.237792275G>A	GRCh38
NC_000001.10:g.237955575G>A , CM000663.1:g.237955575G>A	GRCh37
NC_000001.9:g.236022198G>A	NCBI36
NG_008799.2:g.754874G>A
NG_008799.3:g.755092G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13734G>A MANE Select	NP_001026.2:p.Leu4578=
ENST00000366574.7:c.13734G>A MANE Select	ENSP00000355533.2:p.Leu4578=
NM_001035.2:c.13734G>A	NP_001026.2:p.Leu4578=
ENST00000360064.7:c.13683G>A	ENSP00000353174.7:p.Leu4561=
ENST00000366574.6:c.13734G>A	ENSP00000355533.2:p.Leu4578=
ENST00000608590.5:n.245G>A
ENST00000609119.2:c.*4826G>A	ENSP00000499659.2:n.*4826G>A
ENST00000659194.2:c.5905G>A
ENST00000659194.3:c.13716G>A	ENSP00000499653.3:p.Leu4572=
ENST00000660292.1:c.3787G>A
ENST00000660292.2:c.13755G>A	ENSP00000499787.2:p.Leu4585=
XM_006711802.2:c.13788G>A	XP_006711865.1:p.Leu4596=
XM_006711802.3:c.13788G>A	XP_006711865.1:p.Leu4596=
XM_006711803.2:c.13785G>A	XP_006711866.1:p.Leu4595=
XM_006711803.3:c.13785G>A	XP_006711866.1:p.Leu4595=
XM_006711804.2:c.13764G>A	XP_006711867.1:p.Leu4588=
XM_006711804.3:c.13764G>A	XP_006711867.1:p.Leu4588=
XM_006711805.2:c.13758G>A	XP_006711868.1:p.Leu4586=
XM_006711805.3:c.13758G>A	XP_006711868.1:p.Leu4586=
XM_006711806.2:c.13752G>A	XP_006711869.1:p.Leu4584=
XM_006711806.3:c.13752G>A	XP_006711869.1:p.Leu4584=
XM_006711807.2:c.13728G>A	XP_006711870.1:p.Leu4576=
XM_006711807.3:c.13728G>A	XP_006711870.1:p.Leu4576=
XM_006711808.2:c.13551G>A	XP_006711871.1:p.Leu4517=
XM_006711808.3:c.13551G>A	XP_006711871.1:p.Leu4517=
XM_006711810.2:c.13695G>A	XP_006711873.1:p.Leu4565=
XM_006711810.3:c.13695G>A	XP_006711873.1:p.Leu4565=
XM_017002028.1:c.13767G>A	XP_016857517.1:p.Leu4589=