Canonical Allele Identifier: CA085789

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237832639C>T , CM000663.2:g.237832639C>T	GRCh38
NC_000001.10:g.237995939C>T , CM000663.1:g.237995939C>T	GRCh37
NC_000001.9:g.236062562C>T	NCBI36
NG_008799.2:g.795238C>T
NG_008799.3:g.795456C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14896C>T MANE Select	NP_001026.2:p.Leu4966=
ENST00000366574.7:c.14896C>T MANE Select	ENSP00000355533.2:p.Leu4966=
NM_001035.2:c.14896C>T	NP_001026.2:p.Leu4966=
ENST00000360064.7:c.14845C>T	ENSP00000353174.7:p.Leu4949=
ENST00000366574.6:c.14896C>T	ENSP00000355533.2:p.Leu4966=
ENST00000462585.1:n.739C>T
ENST00000608590.5:n.1306C>T
ENST00000609119.2:c.*5988C>T	ENSP00000499659.2:n.*5988C>T
ENST00000659194.2:c.7067C>T
ENST00000659194.3:c.14878C>T	ENSP00000499653.3:p.Leu4960=
ENST00000660292.2:c.14917C>T	ENSP00000499787.2:p.Leu4973=
XM_006711802.2:c.14950C>T	XP_006711865.1:p.Leu4984=
XM_006711802.3:c.14950C>T	XP_006711865.1:p.Leu4984=
XM_006711803.2:c.14947C>T	XP_006711866.1:p.Leu4983=
XM_006711803.3:c.14947C>T	XP_006711866.1:p.Leu4983=
XM_006711804.2:c.14926C>T	XP_006711867.1:p.Leu4976=
XM_006711804.3:c.14926C>T	XP_006711867.1:p.Leu4976=
XM_006711805.2:c.14920C>T	XP_006711868.1:p.Leu4974=
XM_006711805.3:c.14920C>T	XP_006711868.1:p.Leu4974=
XM_006711806.2:c.14914C>T	XP_006711869.1:p.Leu4972=
XM_006711806.3:c.14914C>T	XP_006711869.1:p.Leu4972=
XM_006711807.2:c.14890C>T	XP_006711870.1:p.Leu4964=
XM_006711807.3:c.14890C>T	XP_006711870.1:p.Leu4964=
XM_006711808.2:c.14713C>T	XP_006711871.1:p.Leu4905=
XM_006711808.3:c.14713C>T	XP_006711871.1:p.Leu4905=
XM_006711810.2:c.14857C>T	XP_006711873.1:p.Leu4953=
XM_006711810.3:c.14857C>T	XP_006711873.1:p.Leu4953=
XM_017002028.1:c.14929C>T	XP_016857517.1:p.Leu4977=