Canonical Allele Identifier: CA345424400

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972292A>C (hg19) ; chr1:g.237808992A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808992A>C , CM000663.2:g.237808992A>C	GRCh38
NC_000001.10:g.237972292A>C , CM000663.1:g.237972292A>C	GRCh37
NC_000001.9:g.236038915A>C	NCBI36
NG_008799.2:g.771591A>C
NG_008799.3:g.771809A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5482A>C	ENSP00000499659.2:n.*5482A>C
ENST00000659194.3:c.14372A>C	ENSP00000499653.3:p.Glu4791Ala
ENST00000660292.2:c.14411A>C	ENSP00000499787.2:p.Glu4804Ala
ENST00000659194.2:c.6561A>C
ENST00000366574.7:c.14390A>C MANE Select	ENSP00000355533.2:p.Glu4797Ala
ENST00000360064.7:c.14339A>C	ENSP00000353174.7:p.Glu4780Ala
ENST00000366574.6:c.14390A>C	ENSP00000355533.2:p.Glu4797Ala
ENST00000608590.5:n.901A>C
NM_001035.2:c.14390A>C	NP_001026.2:p.Glu4797Ala
XM_006711802.2:c.14444A>C	XP_006711865.1:p.Glu4815Ala
XM_006711803.2:c.14441A>C	XP_006711866.1:p.Glu4814Ala
XM_006711804.2:c.14420A>C	XP_006711867.1:p.Glu4807Ala
XM_006711805.2:c.14414A>C	XP_006711868.1:p.Glu4805Ala
XM_006711806.2:c.14408A>C	XP_006711869.1:p.Glu4803Ala
XM_006711807.2:c.14384A>C	XP_006711870.1:p.Glu4795Ala
XM_006711808.2:c.14207A>C	XP_006711871.1:p.Glu4736Ala
XM_006711810.2:c.14351A>C	XP_006711873.1:p.Glu4784Ala
XM_006711802.3:c.14444A>C	XP_006711865.1:p.Glu4815Ala
XM_006711803.3:c.14441A>C	XP_006711866.1:p.Glu4814Ala
XM_006711804.3:c.14420A>C	XP_006711867.1:p.Glu4807Ala
XM_006711805.3:c.14414A>C	XP_006711868.1:p.Glu4805Ala
XM_006711806.3:c.14408A>C	XP_006711869.1:p.Glu4803Ala
XM_006711807.3:c.14384A>C	XP_006711870.1:p.Glu4795Ala
XM_006711808.3:c.14207A>C	XP_006711871.1:p.Glu4736Ala
XM_006711810.3:c.14351A>C	XP_006711873.1:p.Glu4784Ala
XM_017002028.1:c.14423A>C	XP_016857517.1:p.Glu4808Ala
NM_001035.3:c.14390A>C MANE Select	NP_001026.2:p.Glu4797Ala