Canonical Allele Identifier: CA085333

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237786009A>C , CM000663.2:g.237786009A>C	GRCh38
NC_000001.10:g.237949309A>C , CM000663.1:g.237949309A>C	GRCh37
NC_000001.9:g.236015932A>C	NCBI36
NG_008799.2:g.748608A>C
NG_008799.3:g.748826A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13301A>C MANE Select	NP_001026.2:p.Glu4434Ala
ENST00000366574.7:c.13301A>C MANE Select	ENSP00000355533.2:p.Glu4434Ala
NM_001035.2:c.13301A>C	NP_001026.2:p.Glu4434Ala
ENST00000360064.7:c.13243+1003A>C	ENSP00000353174.7:n.13243+1003A>C
ENST00000366574.6:c.13301A>C	ENSP00000355533.2:p.Glu4434Ala
ENST00000609119.1:n.4496A>C
ENST00000609119.2:c.*4393A>C	ENSP00000499659.2:n.*4393A>C
ENST00000659194.2:c.5472A>C
ENST00000659194.3:c.13283A>C	ENSP00000499653.3:p.Glu4428Ala
ENST00000660292.1:c.3354A>C
ENST00000660292.2:c.13322A>C	ENSP00000499787.2:p.Glu4441Ala
XM_006711802.2:c.13355A>C	XP_006711865.1:p.Glu4452Ala
XM_006711802.3:c.13355A>C	XP_006711865.1:p.Glu4452Ala
XM_006711803.2:c.13352A>C	XP_006711866.1:p.Glu4451Ala
XM_006711803.3:c.13352A>C	XP_006711866.1:p.Glu4451Ala
XM_006711804.2:c.13331A>C	XP_006711867.1:p.Glu4444Ala
XM_006711804.3:c.13331A>C	XP_006711867.1:p.Glu4444Ala
XM_006711805.2:c.13325A>C	XP_006711868.1:p.Glu4442Ala
XM_006711805.3:c.13325A>C	XP_006711868.1:p.Glu4442Ala
XM_006711806.2:c.13319A>C	XP_006711869.1:p.Glu4440Ala
XM_006711806.3:c.13319A>C	XP_006711869.1:p.Glu4440Ala
XM_006711807.2:c.13295A>C	XP_006711870.1:p.Glu4432Ala
XM_006711807.3:c.13295A>C	XP_006711870.1:p.Glu4432Ala
XM_006711808.2:c.13118A>C	XP_006711871.1:p.Glu4373Ala
XM_006711808.3:c.13118A>C	XP_006711871.1:p.Glu4373Ala
XM_006711810.2:c.13262A>C	XP_006711873.1:p.Glu4421Ala
XM_006711810.3:c.13262A>C	XP_006711873.1:p.Glu4421Ala
XM_017002028.1:c.13334A>C	XP_016857517.1:p.Glu4445Ala