Canonical Allele Identifier: CA345424313

Gene: RYR2

Linked Data

• ClinVar Variation Id: 2769766
• ClinVar RCV Id: RCV003526568
• MyVariant Identifiers: chr1:g.237972274A>C (hg19) ; chr1:g.237808974A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808974A>C , CM000663.2:g.237808974A>C	GRCh38
NC_000001.10:g.237972274A>C , CM000663.1:g.237972274A>C	GRCh37
NC_000001.9:g.236038897A>C	NCBI36
NG_008799.2:g.771573A>C
NG_008799.3:g.771791A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5464A>C	ENSP00000499659.2:n.*5464A>C
ENST00000659194.3:c.14354A>C	ENSP00000499653.3:p.Lys4785Thr
ENST00000660292.2:c.14393A>C	ENSP00000499787.2:p.Lys4798Thr
ENST00000659194.2:c.6543A>C
ENST00000366574.7:c.14372A>C MANE Select	ENSP00000355533.2:p.Lys4791Thr
ENST00000360064.7:c.14321A>C	ENSP00000353174.7:p.Lys4774Thr
ENST00000366574.6:c.14372A>C	ENSP00000355533.2:p.Lys4791Thr
ENST00000608590.5:n.883A>C
NM_001035.2:c.14372A>C	NP_001026.2:p.Lys4791Thr
XM_006711802.2:c.14426A>C	XP_006711865.1:p.Lys4809Thr
XM_006711803.2:c.14423A>C	XP_006711866.1:p.Lys4808Thr
XM_006711804.2:c.14402A>C	XP_006711867.1:p.Lys4801Thr
XM_006711805.2:c.14396A>C	XP_006711868.1:p.Lys4799Thr
XM_006711806.2:c.14390A>C	XP_006711869.1:p.Lys4797Thr
XM_006711807.2:c.14366A>C	XP_006711870.1:p.Lys4789Thr
XM_006711808.2:c.14189A>C	XP_006711871.1:p.Lys4730Thr
XM_006711810.2:c.14333A>C	XP_006711873.1:p.Lys4778Thr
XM_006711802.3:c.14426A>C	XP_006711865.1:p.Lys4809Thr
XM_006711803.3:c.14423A>C	XP_006711866.1:p.Lys4808Thr
XM_006711804.3:c.14402A>C	XP_006711867.1:p.Lys4801Thr
XM_006711805.3:c.14396A>C	XP_006711868.1:p.Lys4799Thr
XM_006711806.3:c.14390A>C	XP_006711869.1:p.Lys4797Thr
XM_006711807.3:c.14366A>C	XP_006711870.1:p.Lys4789Thr
XM_006711808.3:c.14189A>C	XP_006711871.1:p.Lys4730Thr
XM_006711810.3:c.14333A>C	XP_006711873.1:p.Lys4778Thr
XM_017002028.1:c.14405A>C	XP_016857517.1:p.Lys4802Thr
NM_001035.3:c.14372A>C MANE Select	NP_001026.2:p.Lys4791Thr