Canonical Allele Identifier: CA204287

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237792321A>C , CM000663.2:g.237792321A>C	GRCh38
NC_000001.10:g.237955621A>C , CM000663.1:g.237955621A>C	GRCh37
NC_000001.9:g.236022244A>C	NCBI36
NG_008799.2:g.754920A>C
NG_008799.3:g.755138A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13780A>C MANE Select	NP_001026.2:p.Lys4594Gln
ENST00000366574.7:c.13780A>C MANE Select	ENSP00000355533.2:p.Lys4594Gln
NM_001035.2:c.13780A>C	NP_001026.2:p.Lys4594Gln
ENST00000360064.7:c.13729A>C	ENSP00000353174.7:p.Lys4577Gln
ENST00000366574.6:c.13780A>C	ENSP00000355533.2:p.Lys4594Gln
ENST00000608590.5:n.291A>C
ENST00000609119.2:c.*4872A>C	ENSP00000499659.2:n.*4872A>C
ENST00000659194.2:c.5951A>C
ENST00000659194.3:c.13762A>C	ENSP00000499653.3:p.Lys4588Gln
ENST00000660292.1:c.3833A>C
ENST00000660292.2:c.13801A>C	ENSP00000499787.2:p.Lys4601Gln
XM_006711802.2:c.13834A>C	XP_006711865.1:p.Lys4612Gln
XM_006711802.3:c.13834A>C	XP_006711865.1:p.Lys4612Gln
XM_006711803.2:c.13831A>C	XP_006711866.1:p.Lys4611Gln
XM_006711803.3:c.13831A>C	XP_006711866.1:p.Lys4611Gln
XM_006711804.2:c.13810A>C	XP_006711867.1:p.Lys4604Gln
XM_006711804.3:c.13810A>C	XP_006711867.1:p.Lys4604Gln
XM_006711805.2:c.13804A>C	XP_006711868.1:p.Lys4602Gln
XM_006711805.3:c.13804A>C	XP_006711868.1:p.Lys4602Gln
XM_006711806.2:c.13798A>C	XP_006711869.1:p.Lys4600Gln
XM_006711806.3:c.13798A>C	XP_006711869.1:p.Lys4600Gln
XM_006711807.2:c.13774A>C	XP_006711870.1:p.Lys4592Gln
XM_006711807.3:c.13774A>C	XP_006711870.1:p.Lys4592Gln
XM_006711808.2:c.13597A>C	XP_006711871.1:p.Lys4533Gln
XM_006711808.3:c.13597A>C	XP_006711871.1:p.Lys4533Gln
XM_006711810.2:c.13741A>C	XP_006711873.1:p.Lys4581Gln
XM_006711810.3:c.13741A>C	XP_006711873.1:p.Lys4581Gln
XM_017002028.1:c.13813A>C	XP_016857517.1:p.Lys4605Gln