Canonical Allele Identifier: CA345424342

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972279T>C (hg19) ; chr1:g.237808979T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808979T>C , CM000663.2:g.237808979T>C	GRCh38
NC_000001.10:g.237972279T>C , CM000663.1:g.237972279T>C	GRCh37
NC_000001.9:g.236038902T>C	NCBI36
NG_008799.2:g.771578T>C
NG_008799.3:g.771796T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5469T>C	ENSP00000499659.2:n.*5469T>C
ENST00000659194.3:c.14359T>C	ENSP00000499653.3:p.Tyr4787His
ENST00000660292.2:c.14398T>C	ENSP00000499787.2:p.Tyr4800His
ENST00000659194.2:c.6548T>C
ENST00000366574.7:c.14377T>C MANE Select	ENSP00000355533.2:p.Tyr4793His
ENST00000360064.7:c.14326T>C	ENSP00000353174.7:p.Tyr4776His
ENST00000366574.6:c.14377T>C	ENSP00000355533.2:p.Tyr4793His
ENST00000608590.5:n.888T>C
NM_001035.2:c.14377T>C	NP_001026.2:p.Tyr4793His
XM_006711802.2:c.14431T>C	XP_006711865.1:p.Tyr4811His
XM_006711803.2:c.14428T>C	XP_006711866.1:p.Tyr4810His
XM_006711804.2:c.14407T>C	XP_006711867.1:p.Tyr4803His
XM_006711805.2:c.14401T>C	XP_006711868.1:p.Tyr4801His
XM_006711806.2:c.14395T>C	XP_006711869.1:p.Tyr4799His
XM_006711807.2:c.14371T>C	XP_006711870.1:p.Tyr4791His
XM_006711808.2:c.14194T>C	XP_006711871.1:p.Tyr4732His
XM_006711810.2:c.14338T>C	XP_006711873.1:p.Tyr4780His
XM_006711802.3:c.14431T>C	XP_006711865.1:p.Tyr4811His
XM_006711803.3:c.14428T>C	XP_006711866.1:p.Tyr4810His
XM_006711804.3:c.14407T>C	XP_006711867.1:p.Tyr4803His
XM_006711805.3:c.14401T>C	XP_006711868.1:p.Tyr4801His
XM_006711806.3:c.14395T>C	XP_006711869.1:p.Tyr4799His
XM_006711807.3:c.14371T>C	XP_006711870.1:p.Tyr4791His
XM_006711808.3:c.14194T>C	XP_006711871.1:p.Tyr4732His
XM_006711810.3:c.14338T>C	XP_006711873.1:p.Tyr4780His
XM_017002028.1:c.14410T>C	XP_016857517.1:p.Tyr4804His
NM_001035.3:c.14377T>C MANE Select	NP_001026.2:p.Tyr4793His