Canonical Allele Identifier: CA345413282

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947457T>C (hg19) ; chr1:g.237784157T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784157T>C , CM000663.2:g.237784157T>C	GRCh38
NC_000001.10:g.237947457T>C , CM000663.1:g.237947457T>C	GRCh37
NC_000001.9:g.236014080T>C	NCBI36
NG_008799.2:g.746756T>C
NG_008799.3:g.746974T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3537T>C	ENSP00000499659.2:n.*3537T>C
ENST00000659194.3:c.12433T>C	ENSP00000499653.3:p.Tyr4145His
ENST00000660292.2:c.12466T>C	ENSP00000499787.2:p.Tyr4156His
ENST00000659194.2:c.4622T>C
ENST00000366574.7:c.12445T>C MANE Select	ENSP00000355533.2:p.Tyr4149His
ENST00000659194.1:c.4622T>C
ENST00000660292.1:c.2498T>C
ENST00000360064.7:c.12397T>C	ENSP00000353174.7:p.Tyr4133His
ENST00000366574.6:c.12445T>C	ENSP00000355533.2:p.Tyr4149His
ENST00000609119.1:n.3640T>C
NM_001035.2:c.12445T>C	NP_001026.2:p.Tyr4149His
XM_006711802.2:c.12499T>C	XP_006711865.1:p.Tyr4167His
XM_006711803.2:c.12496T>C	XP_006711866.1:p.Tyr4166His
XM_006711804.2:c.12475T>C	XP_006711867.1:p.Tyr4159His
XM_006711805.2:c.12469T>C	XP_006711868.1:p.Tyr4157His
XM_006711806.2:c.12463T>C	XP_006711869.1:p.Tyr4155His
XM_006711807.2:c.12439T>C	XP_006711870.1:p.Tyr4147His
XM_006711808.2:c.12262T>C	XP_006711871.1:p.Tyr4088His
XM_006711810.2:c.12406T>C	XP_006711873.1:p.Tyr4136His
XM_006711802.3:c.12499T>C	XP_006711865.1:p.Tyr4167His
XM_006711803.3:c.12496T>C	XP_006711866.1:p.Tyr4166His
XM_006711804.3:c.12475T>C	XP_006711867.1:p.Tyr4159His
XM_006711805.3:c.12469T>C	XP_006711868.1:p.Tyr4157His
XM_006711806.3:c.12463T>C	XP_006711869.1:p.Tyr4155His
XM_006711807.3:c.12439T>C	XP_006711870.1:p.Tyr4147His
XM_006711808.3:c.12262T>C	XP_006711871.1:p.Tyr4088His
XM_006711810.3:c.12406T>C	XP_006711873.1:p.Tyr4136His
XM_017002028.1:c.12478T>C	XP_016857517.1:p.Tyr4160His
NM_001035.3:c.12445T>C MANE Select	NP_001026.2:p.Tyr4149His