Canonical Allele Identifier: CA345413472

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947508A>C (hg19) ; chr1:g.237784208A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784208A>C , CM000663.2:g.237784208A>C	GRCh38
NC_000001.10:g.237947508A>C , CM000663.1:g.237947508A>C	GRCh37
NC_000001.9:g.236014131A>C	NCBI36
NG_008799.2:g.746807A>C
NG_008799.3:g.747025A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3588A>C	ENSP00000499659.2:n.*3588A>C
ENST00000659194.3:c.12484A>C	ENSP00000499653.3:p.Lys4162Gln
ENST00000660292.2:c.12517A>C	ENSP00000499787.2:p.Lys4173Gln
ENST00000659194.2:c.4673A>C
ENST00000366574.7:c.12496A>C MANE Select	ENSP00000355533.2:p.Lys4166Gln
ENST00000659194.1:c.4673A>C
ENST00000660292.1:c.2549A>C
ENST00000360064.7:c.12448A>C	ENSP00000353174.7:p.Lys4150Gln
ENST00000366574.6:c.12496A>C	ENSP00000355533.2:p.Lys4166Gln
ENST00000609119.1:n.3691A>C
NM_001035.2:c.12496A>C	NP_001026.2:p.Lys4166Gln
XM_006711802.2:c.12550A>C	XP_006711865.1:p.Lys4184Gln
XM_006711803.2:c.12547A>C	XP_006711866.1:p.Lys4183Gln
XM_006711804.2:c.12526A>C	XP_006711867.1:p.Lys4176Gln
XM_006711805.2:c.12520A>C	XP_006711868.1:p.Lys4174Gln
XM_006711806.2:c.12514A>C	XP_006711869.1:p.Lys4172Gln
XM_006711807.2:c.12490A>C	XP_006711870.1:p.Lys4164Gln
XM_006711808.2:c.12313A>C	XP_006711871.1:p.Lys4105Gln
XM_006711810.2:c.12457A>C	XP_006711873.1:p.Lys4153Gln
XM_006711802.3:c.12550A>C	XP_006711865.1:p.Lys4184Gln
XM_006711803.3:c.12547A>C	XP_006711866.1:p.Lys4183Gln
XM_006711804.3:c.12526A>C	XP_006711867.1:p.Lys4176Gln
XM_006711805.3:c.12520A>C	XP_006711868.1:p.Lys4174Gln
XM_006711806.3:c.12514A>C	XP_006711869.1:p.Lys4172Gln
XM_006711807.3:c.12490A>C	XP_006711870.1:p.Lys4164Gln
XM_006711808.3:c.12313A>C	XP_006711871.1:p.Lys4105Gln
XM_006711810.3:c.12457A>C	XP_006711873.1:p.Lys4153Gln
XM_017002028.1:c.12529A>C	XP_016857517.1:p.Lys4177Gln
NM_001035.3:c.12496A>C MANE Select	NP_001026.2:p.Lys4166Gln