Canonical Allele Identifier: CA345423169

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237806237A>T , CM000663.2:g.237806237A>T	GRCh38
NC_000001.10:g.237969537A>T , CM000663.1:g.237969537A>T	GRCh37
NC_000001.9:g.236036160A>T	NCBI36
NG_008799.2:g.768836A>T
NG_008799.3:g.769054A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14252A>T MANE Select	NP_001026.2:p.Lys4751Met
ENST00000366574.7:c.14252A>T MANE Select	ENSP00000355533.2:p.Lys4751Met
NM_001035.2:c.14252A>T	NP_001026.2:p.Lys4751Met
ENST00000360064.7:c.14201A>T	ENSP00000353174.7:p.Lys4734Met
ENST00000366574.6:c.14252A>T	ENSP00000355533.2:p.Lys4751Met
ENST00000608590.5:n.763A>T
ENST00000609119.2:c.*5344A>T	ENSP00000499659.2:n.*5344A>T
ENST00000659194.2:c.6423A>T
ENST00000659194.3:c.14234A>T	ENSP00000499653.3:p.Lys4745Met
ENST00000660292.2:c.14273A>T	ENSP00000499787.2:p.Lys4758Met
XM_006711802.2:c.14306A>T	XP_006711865.1:p.Lys4769Met
XM_006711802.3:c.14306A>T	XP_006711865.1:p.Lys4769Met
XM_006711803.2:c.14303A>T	XP_006711866.1:p.Lys4768Met
XM_006711803.3:c.14303A>T	XP_006711866.1:p.Lys4768Met
XM_006711804.2:c.14282A>T	XP_006711867.1:p.Lys4761Met
XM_006711804.3:c.14282A>T	XP_006711867.1:p.Lys4761Met
XM_006711805.2:c.14276A>T	XP_006711868.1:p.Lys4759Met
XM_006711805.3:c.14276A>T	XP_006711868.1:p.Lys4759Met
XM_006711806.2:c.14270A>T	XP_006711869.1:p.Lys4757Met
XM_006711806.3:c.14270A>T	XP_006711869.1:p.Lys4757Met
XM_006711807.2:c.14246A>T	XP_006711870.1:p.Lys4749Met
XM_006711807.3:c.14246A>T	XP_006711870.1:p.Lys4749Met
XM_006711808.2:c.14069A>T	XP_006711871.1:p.Lys4690Met
XM_006711808.3:c.14069A>T	XP_006711871.1:p.Lys4690Met
XM_006711810.2:c.14213A>T	XP_006711873.1:p.Lys4738Met
XM_006711810.3:c.14213A>T	XP_006711873.1:p.Lys4738Met
XM_017002028.1:c.14285A>T	XP_016857517.1:p.Lys4762Met