Canonical Allele Identifier: CA345418616

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237795313C>A , CM000663.2:g.237795313C>A	GRCh38
NC_000001.10:g.237958613C>A , CM000663.1:g.237958613C>A	GRCh37
NC_000001.9:g.236025236C>A	NCBI36
NG_008799.2:g.757912C>A
NG_008799.3:g.758130C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13938C>A MANE Select	NP_001026.2:p.Asp4646Glu
ENST00000366574.7:c.13938C>A MANE Select	ENSP00000355533.2:p.Asp4646Glu
NM_001035.2:c.13938C>A	NP_001026.2:p.Asp4646Glu
ENST00000360064.7:c.13887C>A	ENSP00000353174.7:p.Asp4629Glu
ENST00000366574.6:c.13938C>A	ENSP00000355533.2:p.Asp4646Glu
ENST00000608590.5:n.449C>A
ENST00000609119.2:c.*5030C>A	ENSP00000499659.2:n.*5030C>A
ENST00000659194.2:c.6109C>A
ENST00000659194.3:c.13920C>A	ENSP00000499653.3:p.Asp4640Glu
ENST00000660292.2:c.13959C>A	ENSP00000499787.2:p.Asp4653Glu
XM_006711802.2:c.13992C>A	XP_006711865.1:p.Asp4664Glu
XM_006711802.3:c.13992C>A	XP_006711865.1:p.Asp4664Glu
XM_006711803.2:c.13989C>A	XP_006711866.1:p.Asp4663Glu
XM_006711803.3:c.13989C>A	XP_006711866.1:p.Asp4663Glu
XM_006711804.2:c.13968C>A	XP_006711867.1:p.Asp4656Glu
XM_006711804.3:c.13968C>A	XP_006711867.1:p.Asp4656Glu
XM_006711805.2:c.13962C>A	XP_006711868.1:p.Asp4654Glu
XM_006711805.3:c.13962C>A	XP_006711868.1:p.Asp4654Glu
XM_006711806.2:c.13956C>A	XP_006711869.1:p.Asp4652Glu
XM_006711806.3:c.13956C>A	XP_006711869.1:p.Asp4652Glu
XM_006711807.2:c.13932C>A	XP_006711870.1:p.Asp4644Glu
XM_006711807.3:c.13932C>A	XP_006711870.1:p.Asp4644Glu
XM_006711808.2:c.13755C>A	XP_006711871.1:p.Asp4585Glu
XM_006711808.3:c.13755C>A	XP_006711871.1:p.Asp4585Glu
XM_006711810.2:c.13899C>A	XP_006711873.1:p.Asp4633Glu
XM_006711810.3:c.13899C>A	XP_006711873.1:p.Asp4633Glu
XM_017002028.1:c.13971C>A	XP_016857517.1:p.Asp4657Glu