Canonical Allele Identifier: CA085611

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237806205C>T , CM000663.2:g.237806205C>T	GRCh38
NC_000001.10:g.237969505C>T , CM000663.1:g.237969505C>T	GRCh37
NC_000001.9:g.236036128C>T	NCBI36
NG_008799.2:g.768804C>T
NG_008799.3:g.769022C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5312C>T	ENSP00000499659.2:n.*5312C>T
ENST00000659194.3:c.14202C>T	ENSP00000499653.3:p.Ala4734=
ENST00000660292.2:c.14241C>T	ENSP00000499787.2:p.Ala4747=
ENST00000659194.2:c.6391C>T
ENST00000366574.7:c.14220C>T MANE Select	ENSP00000355533.2:p.Ala4740=
ENST00000360064.7:c.14169C>T	ENSP00000353174.7:p.Ala4723=
ENST00000366574.6:c.14220C>T	ENSP00000355533.2:p.Ala4740=
ENST00000608590.5:n.731C>T
NM_001035.2:c.14220C>T	NP_001026.2:p.Ala4740=
XM_006711802.2:c.14274C>T	XP_006711865.1:p.Ala4758=
XM_006711803.2:c.14271C>T	XP_006711866.1:p.Ala4757=
XM_006711804.2:c.14250C>T	XP_006711867.1:p.Ala4750=
XM_006711805.2:c.14244C>T	XP_006711868.1:p.Ala4748=
XM_006711806.2:c.14238C>T	XP_006711869.1:p.Ala4746=
XM_006711807.2:c.14214C>T	XP_006711870.1:p.Ala4738=
XM_006711808.2:c.14037C>T	XP_006711871.1:p.Ala4679=
XM_006711810.2:c.14181C>T	XP_006711873.1:p.Ala4727=
XM_006711802.3:c.14274C>T	XP_006711865.1:p.Ala4758=
XM_006711803.3:c.14271C>T	XP_006711866.1:p.Ala4757=
XM_006711804.3:c.14250C>T	XP_006711867.1:p.Ala4750=
XM_006711805.3:c.14244C>T	XP_006711868.1:p.Ala4748=
XM_006711806.3:c.14238C>T	XP_006711869.1:p.Ala4746=
XM_006711807.3:c.14214C>T	XP_006711870.1:p.Ala4738=
XM_006711808.3:c.14037C>T	XP_006711871.1:p.Ala4679=
XM_006711810.3:c.14181C>T	XP_006711873.1:p.Ala4727=
XM_017002028.1:c.14253C>T	XP_016857517.1:p.Ala4751=
NM_001035.3:c.14220C>T MANE Select	NP_001026.2:p.Ala4740=