Canonical Allele Identifier: CA345403612

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237841374C>T (hg19) ; chr1:g.237678074C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237678074C>T , CM000663.2:g.237678074C>T	GRCh38
NC_000001.10:g.237841374C>T , CM000663.1:g.237841374C>T	GRCh37
NC_000001.9:g.235907997C>T	NCBI36
NG_008799.2:g.640673C>T
NG_008799.3:g.640891C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.8831-2382C>T	ENSP00000499659.2:n.8831-2382C>T
ENST00000659194.3:c.8857C>T	ENSP00000499653.3:p.His2953Tyr
ENST00000660292.2:c.8857C>T	ENSP00000499787.2:p.His2953Tyr
ENST00000659194.2:c.1046C>T
ENST00000366574.7:c.8857C>T MANE Select	ENSP00000355533.2:p.His2953Tyr
ENST00000659194.1:c.1046C>T
ENST00000360064.7:c.8809C>T	ENSP00000353174.7:p.His2937Tyr
ENST00000366574.6:c.8857C>T	ENSP00000355533.2:p.His2953Tyr
ENST00000609119.1:n.84-2382C>T
NM_001035.2:c.8857C>T	NP_001026.2:p.His2953Tyr
XM_006711802.2:c.8887C>T	XP_006711865.1:p.His2963Tyr
XM_006711803.2:c.8884C>T	XP_006711866.1:p.His2962Tyr
XM_006711804.2:c.8887C>T	XP_006711867.1:p.His2963Tyr
XM_006711805.2:c.8857C>T	XP_006711868.1:p.His2953Tyr
XM_006711806.2:c.8887C>T	XP_006711869.1:p.His2963Tyr
XM_006711807.2:c.8887C>T	XP_006711870.1:p.His2963Tyr
XM_006711808.2:c.8860+3228C>T	XP_006711871.1:n.8860+3228C>T
XM_006711810.2:c.8854C>T	XP_006711873.1:p.His2952Tyr
XR_949152.1:n.9168C>T
XM_006711802.3:c.8887C>T	XP_006711865.1:p.His2963Tyr
XM_006711803.3:c.8884C>T	XP_006711866.1:p.His2962Tyr
XM_006711804.3:c.8887C>T	XP_006711867.1:p.His2963Tyr
XM_006711805.3:c.8857C>T	XP_006711868.1:p.His2953Tyr
XM_006711806.3:c.8887C>T	XP_006711869.1:p.His2963Tyr
XM_006711807.3:c.8887C>T	XP_006711870.1:p.His2963Tyr
XM_006711808.3:c.8860+3228C>T	XP_006711871.1:n.8860+3228C>T
XM_006711810.3:c.8854C>T	XP_006711873.1:p.His2952Tyr
XM_017002028.1:c.8866C>T	XP_016857517.1:p.His2956Tyr
XR_949152.2:n.9201C>T
NM_001035.3:c.8857C>T MANE Select	NP_001026.2:p.His2953Tyr