Canonical Allele Identifier: CA345411874

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237783718G>C , CM000663.2:g.237783718G>C	GRCh38
NC_000001.10:g.237947018G>C , CM000663.1:g.237947018G>C	GRCh37
NC_000001.9:g.236013641G>C	NCBI36
NG_008799.2:g.746317G>C
NG_008799.3:g.746535G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.12006G>C MANE Select	NP_001026.2:p.Met4002Ile
ENST00000366574.7:c.12006G>C MANE Select	ENSP00000355533.2:p.Met4002Ile
NM_001035.2:c.12006G>C	NP_001026.2:p.Met4002Ile
ENST00000360064.7:c.11958G>C	ENSP00000353174.7:p.Met3986Ile
ENST00000366574.6:c.12006G>C	ENSP00000355533.2:p.Met4002Ile
ENST00000609119.1:n.3201G>C
ENST00000609119.2:c.*3098G>C	ENSP00000499659.2:n.*3098G>C
ENST00000659194.1:c.4183G>C
ENST00000659194.2:c.4183G>C
ENST00000659194.3:c.11994G>C	ENSP00000499653.3:p.Met3998Ile
ENST00000660292.1:c.2059G>C
ENST00000660292.2:c.12027G>C	ENSP00000499787.2:p.Met4009Ile
XM_006711802.2:c.12060G>C	XP_006711865.1:p.Met4020Ile
XM_006711802.3:c.12060G>C	XP_006711865.1:p.Met4020Ile
XM_006711803.2:c.12057G>C	XP_006711866.1:p.Met4019Ile
XM_006711803.3:c.12057G>C	XP_006711866.1:p.Met4019Ile
XM_006711804.2:c.12036G>C	XP_006711867.1:p.Met4012Ile
XM_006711804.3:c.12036G>C	XP_006711867.1:p.Met4012Ile
XM_006711805.2:c.12030G>C	XP_006711868.1:p.Met4010Ile
XM_006711805.3:c.12030G>C	XP_006711868.1:p.Met4010Ile
XM_006711806.2:c.12024G>C	XP_006711869.1:p.Met4008Ile
XM_006711806.3:c.12024G>C	XP_006711869.1:p.Met4008Ile
XM_006711807.2:c.12000G>C	XP_006711870.1:p.Met4000Ile
XM_006711807.3:c.12000G>C	XP_006711870.1:p.Met4000Ile
XM_006711808.2:c.11823G>C	XP_006711871.1:p.Met3941Ile
XM_006711808.3:c.11823G>C	XP_006711871.1:p.Met3941Ile
XM_006711810.2:c.11967G>C	XP_006711873.1:p.Met3989Ile
XM_006711810.3:c.11967G>C	XP_006711873.1:p.Met3989Ile
XM_017002028.1:c.12039G>C	XP_016857517.1:p.Met4013Ile