Canonical Allele Identifier: CA10576413

Gene: RYR2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237792134G>A , CM000663.2:g.237792134G>A	GRCh38
NC_000001.10:g.237955434G>A , CM000663.1:g.237955434G>A	GRCh37
NC_000001.9:g.236022057G>A	NCBI36
NG_008799.2:g.754733G>A
NG_008799.3:g.754951G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*4685G>A	ENSP00000499659.2:n.*4685G>A
ENST00000659194.3:c.13575G>A	ENSP00000499653.3:p.Lys4525=
ENST00000660292.2:c.13614G>A	ENSP00000499787.2:p.Lys4538=
ENST00000659194.2:c.5764G>A
ENST00000366574.7:c.13593G>A MANE Select	ENSP00000355533.2:p.Lys4531=
ENST00000660292.1:c.3646G>A
ENST00000360064.7:c.13542G>A	ENSP00000353174.7:p.Lys4514=
ENST00000366574.6:c.13593G>A	ENSP00000355533.2:p.Lys4531=
ENST00000608590.5:n.104G>A
NM_001035.2:c.13593G>A	NP_001026.2:p.Lys4531=
XM_006711802.2:c.13647G>A	XP_006711865.1:p.Lys4549=
XM_006711803.2:c.13644G>A	XP_006711866.1:p.Lys4548=
XM_006711804.2:c.13623G>A	XP_006711867.1:p.Lys4541=
XM_006711805.2:c.13617G>A	XP_006711868.1:p.Lys4539=
XM_006711806.2:c.13611G>A	XP_006711869.1:p.Lys4537=
XM_006711807.2:c.13587G>A	XP_006711870.1:p.Lys4529=
XM_006711808.2:c.13410G>A	XP_006711871.1:p.Lys4470=
XM_006711810.2:c.13554G>A	XP_006711873.1:p.Lys4518=
XM_006711802.3:c.13647G>A	XP_006711865.1:p.Lys4549=
XM_006711803.3:c.13644G>A	XP_006711866.1:p.Lys4548=
XM_006711804.3:c.13623G>A	XP_006711867.1:p.Lys4541=
XM_006711805.3:c.13617G>A	XP_006711868.1:p.Lys4539=
XM_006711806.3:c.13611G>A	XP_006711869.1:p.Lys4537=
XM_006711807.3:c.13587G>A	XP_006711870.1:p.Lys4529=
XM_006711808.3:c.13410G>A	XP_006711871.1:p.Lys4470=
XM_006711810.3:c.13554G>A	XP_006711873.1:p.Lys4518=
XM_017002028.1:c.13626G>A	XP_016857517.1:p.Lys4542=
NM_001035.3:c.13593G>A MANE Select	NP_001026.2:p.Lys4531=