Canonical Allele Identifier: CA345413592

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947559A>C (hg19) ; chr1:g.237784259A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784259A>C , CM000663.2:g.237784259A>C	GRCh38
NC_000001.10:g.237947559A>C , CM000663.1:g.237947559A>C	GRCh37
NC_000001.9:g.236014182A>C	NCBI36
NG_008799.2:g.746858A>C
NG_008799.3:g.747076A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3639A>C	ENSP00000499659.2:n.*3639A>C
ENST00000659194.3:c.12535A>C	ENSP00000499653.3:p.Lys4179Gln
ENST00000660292.2:c.12568A>C	ENSP00000499787.2:p.Lys4190Gln
ENST00000659194.2:c.4724A>C
ENST00000366574.7:c.12547A>C MANE Select	ENSP00000355533.2:p.Lys4183Gln
ENST00000659194.1:c.4724A>C
ENST00000660292.1:c.2600A>C
ENST00000360064.7:c.12499A>C	ENSP00000353174.7:p.Lys4167Gln
ENST00000366574.6:c.12547A>C	ENSP00000355533.2:p.Lys4183Gln
ENST00000609119.1:n.3742A>C
NM_001035.2:c.12547A>C	NP_001026.2:p.Lys4183Gln
XM_006711802.2:c.12601A>C	XP_006711865.1:p.Lys4201Gln
XM_006711803.2:c.12598A>C	XP_006711866.1:p.Lys4200Gln
XM_006711804.2:c.12577A>C	XP_006711867.1:p.Lys4193Gln
XM_006711805.2:c.12571A>C	XP_006711868.1:p.Lys4191Gln
XM_006711806.2:c.12565A>C	XP_006711869.1:p.Lys4189Gln
XM_006711807.2:c.12541A>C	XP_006711870.1:p.Lys4181Gln
XM_006711808.2:c.12364A>C	XP_006711871.1:p.Lys4122Gln
XM_006711810.2:c.12508A>C	XP_006711873.1:p.Lys4170Gln
XM_006711802.3:c.12601A>C	XP_006711865.1:p.Lys4201Gln
XM_006711803.3:c.12598A>C	XP_006711866.1:p.Lys4200Gln
XM_006711804.3:c.12577A>C	XP_006711867.1:p.Lys4193Gln
XM_006711805.3:c.12571A>C	XP_006711868.1:p.Lys4191Gln
XM_006711806.3:c.12565A>C	XP_006711869.1:p.Lys4189Gln
XM_006711807.3:c.12541A>C	XP_006711870.1:p.Lys4181Gln
XM_006711808.3:c.12364A>C	XP_006711871.1:p.Lys4122Gln
XM_006711810.3:c.12508A>C	XP_006711873.1:p.Lys4170Gln
XM_017002028.1:c.12580A>C	XP_016857517.1:p.Lys4194Gln
NM_001035.3:c.12547A>C MANE Select	NP_001026.2:p.Lys4183Gln