Canonical Allele Identifier: CA345424591

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972329G>C (hg19) ; chr1:g.237809029G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809029G>C , CM000663.2:g.237809029G>C	GRCh38
NC_000001.10:g.237972329G>C , CM000663.1:g.237972329G>C	GRCh37
NC_000001.9:g.236038952G>C	NCBI36
NG_008799.2:g.771628G>C
NG_008799.3:g.771846G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5519G>C	ENSP00000499659.2:n.*5519G>C
ENST00000659194.3:c.14409G>C	ENSP00000499653.3:p.Met4803Ile
ENST00000660292.2:c.14448G>C	ENSP00000499787.2:p.Met4816Ile
ENST00000659194.2:c.6598G>C
ENST00000366574.7:c.14427G>C MANE Select	ENSP00000355533.2:p.Met4809Ile
ENST00000360064.7:c.14376G>C	ENSP00000353174.7:p.Met4792Ile
ENST00000366574.6:c.14427G>C	ENSP00000355533.2:p.Met4809Ile
ENST00000608590.5:n.938G>C
NM_001035.2:c.14427G>C	NP_001026.2:p.Met4809Ile
XM_006711802.2:c.14481G>C	XP_006711865.1:p.Met4827Ile
XM_006711803.2:c.14478G>C	XP_006711866.1:p.Met4826Ile
XM_006711804.2:c.14457G>C	XP_006711867.1:p.Met4819Ile
XM_006711805.2:c.14451G>C	XP_006711868.1:p.Met4817Ile
XM_006711806.2:c.14445G>C	XP_006711869.1:p.Met4815Ile
XM_006711807.2:c.14421G>C	XP_006711870.1:p.Met4807Ile
XM_006711808.2:c.14244G>C	XP_006711871.1:p.Met4748Ile
XM_006711810.2:c.14388G>C	XP_006711873.1:p.Met4796Ile
XM_006711802.3:c.14481G>C	XP_006711865.1:p.Met4827Ile
XM_006711803.3:c.14478G>C	XP_006711866.1:p.Met4826Ile
XM_006711804.3:c.14457G>C	XP_006711867.1:p.Met4819Ile
XM_006711805.3:c.14451G>C	XP_006711868.1:p.Met4817Ile
XM_006711806.3:c.14445G>C	XP_006711869.1:p.Met4815Ile
XM_006711807.3:c.14421G>C	XP_006711870.1:p.Met4807Ile
XM_006711808.3:c.14244G>C	XP_006711871.1:p.Met4748Ile
XM_006711810.3:c.14388G>C	XP_006711873.1:p.Met4796Ile
XM_017002028.1:c.14460G>C	XP_016857517.1:p.Met4820Ile
NM_001035.3:c.14427G>C MANE Select	NP_001026.2:p.Met4809Ile