Canonical Allele Identifier: CA345429377

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237991718A>C (hg19) ; chr1:g.237828418A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237828418A>C , CM000663.2:g.237828418A>C	GRCh38
NC_000001.10:g.237991718A>C , CM000663.1:g.237991718A>C	GRCh37
NC_000001.9:g.236058341A>C	NCBI36
NG_008799.2:g.791017A>C
NG_008799.3:g.791235A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*5720A>C	ENSP00000499659.2:n.*5720A>C
ENST00000659194.3:c.14610A>C	ENSP00000499653.3:p.Gln4870His
ENST00000660292.2:c.14649A>C	ENSP00000499787.2:p.Gln4883His
ENST00000659194.2:c.6799A>C
ENST00000366574.7:c.14628A>C MANE Select	ENSP00000355533.2:p.Gln4876His
ENST00000360064.7:c.14577A>C	ENSP00000353174.7:p.Gln4859His
ENST00000366574.6:c.14628A>C	ENSP00000355533.2:p.Gln4876His
ENST00000608590.5:n.1139A>C
NM_001035.2:c.14628A>C	NP_001026.2:p.Gln4876His
XM_006711802.2:c.14682A>C	XP_006711865.1:p.Gln4894His
XM_006711803.2:c.14679A>C	XP_006711866.1:p.Gln4893His
XM_006711804.2:c.14658A>C	XP_006711867.1:p.Gln4886His
XM_006711805.2:c.14652A>C	XP_006711868.1:p.Gln4884His
XM_006711806.2:c.14646A>C	XP_006711869.1:p.Gln4882His
XM_006711807.2:c.14622A>C	XP_006711870.1:p.Gln4874His
XM_006711808.2:c.14445A>C	XP_006711871.1:p.Gln4815His
XM_006711810.2:c.14589A>C	XP_006711873.1:p.Gln4863His
XM_006711802.3:c.14682A>C	XP_006711865.1:p.Gln4894His
XM_006711803.3:c.14679A>C	XP_006711866.1:p.Gln4893His
XM_006711804.3:c.14658A>C	XP_006711867.1:p.Gln4886His
XM_006711805.3:c.14652A>C	XP_006711868.1:p.Gln4884His
XM_006711806.3:c.14646A>C	XP_006711869.1:p.Gln4882His
XM_006711807.3:c.14622A>C	XP_006711870.1:p.Gln4874His
XM_006711808.3:c.14445A>C	XP_006711871.1:p.Gln4815His
XM_006711810.3:c.14589A>C	XP_006711873.1:p.Gln4863His
XM_017002028.1:c.14661A>C	XP_016857517.1:p.Gln4887His
NM_001035.3:c.14628A>C MANE Select	NP_001026.2:p.Gln4876His