Canonical Allele Identifier: CA006517

Gene: RYR2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237709002C>T , CM000663.2:g.237709002C>T	GRCh38
NC_000001.10:g.237872302C>T , CM000663.1:g.237872302C>T	GRCh37
NC_000001.9:g.235938925C>T	NCBI36
NG_008799.2:g.671601C>T
NG_008799.3:g.671819C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*1081C>T	ENSP00000499659.2:n.*1081C>T
ENST00000659194.3:c.10046C>T	ENSP00000499653.3:p.Ser3349Leu
ENST00000660292.2:c.10046C>T	ENSP00000499787.2:p.Ser3349Leu
ENST00000659194.2:c.2235C>T
ENST00000366574.7:c.10046C>T MANE Select	ENSP00000355533.2:p.Ser3349Leu
ENST00000659194.1:c.2235C>T
ENST00000660292.1:c.78C>T
ENST00000360064.7:c.9998C>T	ENSP00000353174.7:p.Ser3333Leu
ENST00000366574.6:c.10046C>T	ENSP00000355533.2:p.Ser3349Leu
ENST00000609119.1:n.1184C>T
NM_001035.2:c.10046C>T	NP_001026.2:p.Ser3349Leu
XM_006711802.2:c.10076C>T	XP_006711865.1:p.Ser3359Leu
XM_006711803.2:c.10073C>T	XP_006711866.1:p.Ser3358Leu
XM_006711804.2:c.10076C>T	XP_006711867.1:p.Ser3359Leu
XM_006711805.2:c.10046C>T	XP_006711868.1:p.Ser3349Leu
XM_006711806.2:c.10076C>T	XP_006711869.1:p.Ser3359Leu
XM_006711807.2:c.10076C>T	XP_006711870.1:p.Ser3359Leu
XM_006711808.2:c.9839C>T	XP_006711871.1:p.Ser3280Leu
XM_006711810.2:c.10043C>T	XP_006711873.1:p.Ser3348Leu
XM_006711802.3:c.10076C>T	XP_006711865.1:p.Ser3359Leu
XM_006711803.3:c.10073C>T	XP_006711866.1:p.Ser3358Leu
XM_006711804.3:c.10076C>T	XP_006711867.1:p.Ser3359Leu
XM_006711805.3:c.10046C>T	XP_006711868.1:p.Ser3349Leu
XM_006711806.3:c.10076C>T	XP_006711869.1:p.Ser3359Leu
XM_006711807.3:c.10076C>T	XP_006711870.1:p.Ser3359Leu
XM_006711808.3:c.9839C>T	XP_006711871.1:p.Ser3280Leu
XM_006711810.3:c.10043C>T	XP_006711873.1:p.Ser3348Leu
XM_017002028.1:c.10055C>T	XP_016857517.1:p.Ser3352Leu
NM_001035.3:c.10046C>T MANE Select	NP_001026.2:p.Ser3349Leu