Canonical Allele Identifier: CA345413573

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947548A>C (hg19) ; chr1:g.237784248A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784248A>C , CM000663.2:g.237784248A>C	GRCh38
NC_000001.10:g.237947548A>C , CM000663.1:g.237947548A>C	GRCh37
NC_000001.9:g.236014171A>C	NCBI36
NG_008799.2:g.746847A>C
NG_008799.3:g.747065A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3628A>C	ENSP00000499659.2:n.*3628A>C
ENST00000659194.3:c.12524A>C	ENSP00000499653.3:p.Glu4175Ala
ENST00000660292.2:c.12557A>C	ENSP00000499787.2:p.Glu4186Ala
ENST00000659194.2:c.4713A>C
ENST00000366574.7:c.12536A>C MANE Select	ENSP00000355533.2:p.Glu4179Ala
ENST00000659194.1:c.4713A>C
ENST00000660292.1:c.2589A>C
ENST00000360064.7:c.12488A>C	ENSP00000353174.7:p.Glu4163Ala
ENST00000366574.6:c.12536A>C	ENSP00000355533.2:p.Glu4179Ala
ENST00000609119.1:n.3731A>C
NM_001035.2:c.12536A>C	NP_001026.2:p.Glu4179Ala
XM_006711802.2:c.12590A>C	XP_006711865.1:p.Glu4197Ala
XM_006711803.2:c.12587A>C	XP_006711866.1:p.Glu4196Ala
XM_006711804.2:c.12566A>C	XP_006711867.1:p.Glu4189Ala
XM_006711805.2:c.12560A>C	XP_006711868.1:p.Glu4187Ala
XM_006711806.2:c.12554A>C	XP_006711869.1:p.Glu4185Ala
XM_006711807.2:c.12530A>C	XP_006711870.1:p.Glu4177Ala
XM_006711808.2:c.12353A>C	XP_006711871.1:p.Glu4118Ala
XM_006711810.2:c.12497A>C	XP_006711873.1:p.Glu4166Ala
XM_006711802.3:c.12590A>C	XP_006711865.1:p.Glu4197Ala
XM_006711803.3:c.12587A>C	XP_006711866.1:p.Glu4196Ala
XM_006711804.3:c.12566A>C	XP_006711867.1:p.Glu4189Ala
XM_006711805.3:c.12560A>C	XP_006711868.1:p.Glu4187Ala
XM_006711806.3:c.12554A>C	XP_006711869.1:p.Glu4185Ala
XM_006711807.3:c.12530A>C	XP_006711870.1:p.Glu4177Ala
XM_006711808.3:c.12353A>C	XP_006711871.1:p.Glu4118Ala
XM_006711810.3:c.12497A>C	XP_006711873.1:p.Glu4166Ala
XM_017002028.1:c.12569A>C	XP_016857517.1:p.Glu4190Ala
NM_001035.3:c.12536A>C MANE Select	NP_001026.2:p.Glu4179Ala