Canonical Allele Identifier: CA16610095

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.237783927C>T , CM000663.2:g.237783927C>T	GRCh38
NC_000001.10:g.237947227C>T , CM000663.1:g.237947227C>T	GRCh37
NC_000001.9:g.236013850C>T	NCBI36
NG_008799.2:g.746526C>T
NG_008799.3:g.746744C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3307C>T	ENSP00000499659.2:n.*3307C>T
ENST00000659194.3:c.12203C>T	ENSP00000499653.3:p.Thr4068Met
ENST00000660292.2:c.12236C>T	ENSP00000499787.2:p.Thr4079Met
ENST00000659194.2:c.4392C>T
ENST00000366574.7:c.12215C>T MANE Select	ENSP00000355533.2:p.Thr4072Met
ENST00000659194.1:c.4392C>T
ENST00000660292.1:c.2268C>T
ENST00000360064.7:c.12167C>T	ENSP00000353174.7:p.Thr4056Met
ENST00000366574.6:c.12215C>T	ENSP00000355533.2:p.Thr4072Met
ENST00000609119.1:n.3410C>T
NM_001035.2:c.12215C>T	NP_001026.2:p.Thr4072Met
XM_006711802.2:c.12269C>T	XP_006711865.1:p.Thr4090Met
XM_006711803.2:c.12266C>T	XP_006711866.1:p.Thr4089Met
XM_006711804.2:c.12245C>T	XP_006711867.1:p.Thr4082Met
XM_006711805.2:c.12239C>T	XP_006711868.1:p.Thr4080Met
XM_006711806.2:c.12233C>T	XP_006711869.1:p.Thr4078Met
XM_006711807.2:c.12209C>T	XP_006711870.1:p.Thr4070Met
XM_006711808.2:c.12032C>T	XP_006711871.1:p.Thr4011Met
XM_006711810.2:c.12176C>T	XP_006711873.1:p.Thr4059Met
XM_006711802.3:c.12269C>T	XP_006711865.1:p.Thr4090Met
XM_006711803.3:c.12266C>T	XP_006711866.1:p.Thr4089Met
XM_006711804.3:c.12245C>T	XP_006711867.1:p.Thr4082Met
XM_006711805.3:c.12239C>T	XP_006711868.1:p.Thr4080Met
XM_006711806.3:c.12233C>T	XP_006711869.1:p.Thr4078Met
XM_006711807.3:c.12209C>T	XP_006711870.1:p.Thr4070Met
XM_006711808.3:c.12032C>T	XP_006711871.1:p.Thr4011Met
XM_006711810.3:c.12176C>T	XP_006711873.1:p.Thr4059Met
XM_017002028.1:c.12248C>T	XP_016857517.1:p.Thr4083Met
NM_001035.3:c.12215C>T MANE Select	NP_001026.2:p.Thr4072Met