Canonical Allele Identifier: CA424032284

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947531A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784231A>C , CM000663.2:g.237784231A>C	GRCh38
NC_000001.10:g.237947531A>C , CM000663.1:g.237947531A>C	GRCh37
NC_000001.9:g.236014154A>C	NCBI36
NG_008799.2:g.746830A>C
NG_008799.3:g.747048A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3611A>C	ENSP00000499659.2:n.*3611A>C
ENST00000659194.3:c.12507A>C	ENSP00000499653.3:p.Ile4169=
ENST00000660292.2:c.12540A>C	ENSP00000499787.2:p.Ile4180=
ENST00000659194.2:c.4696A>C
ENST00000366574.7:c.12519A>C MANE Select	ENSP00000355533.2:p.Ile4173=
ENST00000659194.1:c.4696A>C
ENST00000660292.1:c.2572A>C
ENST00000360064.7:c.12471A>C	ENSP00000353174.7:p.Ile4157=
ENST00000366574.6:c.12519A>C	ENSP00000355533.2:p.Ile4173=
ENST00000609119.1:n.3714A>C
NM_001035.2:c.12519A>C	NP_001026.2:p.Ile4173=
XM_006711802.2:c.12573A>C	XP_006711865.1:p.Ile4191=
XM_006711803.2:c.12570A>C	XP_006711866.1:p.Ile4190=
XM_006711804.2:c.12549A>C	XP_006711867.1:p.Ile4183=
XM_006711805.2:c.12543A>C	XP_006711868.1:p.Ile4181=
XM_006711806.2:c.12537A>C	XP_006711869.1:p.Ile4179=
XM_006711807.2:c.12513A>C	XP_006711870.1:p.Ile4171=
XM_006711808.2:c.12336A>C	XP_006711871.1:p.Ile4112=
XM_006711810.2:c.12480A>C	XP_006711873.1:p.Ile4160=
XM_006711802.3:c.12573A>C	XP_006711865.1:p.Ile4191=
XM_006711803.3:c.12570A>C	XP_006711866.1:p.Ile4190=
XM_006711804.3:c.12549A>C	XP_006711867.1:p.Ile4183=
XM_006711805.3:c.12543A>C	XP_006711868.1:p.Ile4181=
XM_006711806.3:c.12537A>C	XP_006711869.1:p.Ile4179=
XM_006711807.3:c.12513A>C	XP_006711870.1:p.Ile4171=
XM_006711808.3:c.12336A>C	XP_006711871.1:p.Ile4112=
XM_006711810.3:c.12480A>C	XP_006711873.1:p.Ile4160=
XM_017002028.1:c.12552A>C	XP_016857517.1:p.Ile4184=
NM_001035.3:c.12519A>C MANE Select	NP_001026.2:p.Ile4173=