Canonical Allele Identifier: CA085122

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.237783795C>T , CM000663.2:g.237783795C>T	GRCh38
NC_000001.10:g.237947095C>T , CM000663.1:g.237947095C>T	GRCh37
NC_000001.9:g.236013718C>T	NCBI36
NG_008799.2:g.746394C>T
NG_008799.3:g.746612C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3175C>T	ENSP00000499659.2:n.*3175C>T
ENST00000659194.3:c.12071C>T	ENSP00000499653.3:p.Ser4024Leu
ENST00000660292.2:c.12104C>T	ENSP00000499787.2:p.Ser4035Leu
ENST00000659194.2:c.4260C>T
ENST00000366574.7:c.12083C>T MANE Select	ENSP00000355533.2:p.Ser4028Leu
ENST00000659194.1:c.4260C>T
ENST00000660292.1:c.2136C>T
ENST00000360064.7:c.12035C>T	ENSP00000353174.7:p.Ser4012Leu
ENST00000366574.6:c.12083C>T	ENSP00000355533.2:p.Ser4028Leu
ENST00000609119.1:n.3278C>T
NM_001035.2:c.12083C>T	NP_001026.2:p.Ser4028Leu
XM_006711802.2:c.12137C>T	XP_006711865.1:p.Ser4046Leu
XM_006711803.2:c.12134C>T	XP_006711866.1:p.Ser4045Leu
XM_006711804.2:c.12113C>T	XP_006711867.1:p.Ser4038Leu
XM_006711805.2:c.12107C>T	XP_006711868.1:p.Ser4036Leu
XM_006711806.2:c.12101C>T	XP_006711869.1:p.Ser4034Leu
XM_006711807.2:c.12077C>T	XP_006711870.1:p.Ser4026Leu
XM_006711808.2:c.11900C>T	XP_006711871.1:p.Ser3967Leu
XM_006711810.2:c.12044C>T	XP_006711873.1:p.Ser4015Leu
XM_006711802.3:c.12137C>T	XP_006711865.1:p.Ser4046Leu
XM_006711803.3:c.12134C>T	XP_006711866.1:p.Ser4045Leu
XM_006711804.3:c.12113C>T	XP_006711867.1:p.Ser4038Leu
XM_006711805.3:c.12107C>T	XP_006711868.1:p.Ser4036Leu
XM_006711806.3:c.12101C>T	XP_006711869.1:p.Ser4034Leu
XM_006711807.3:c.12077C>T	XP_006711870.1:p.Ser4026Leu
XM_006711808.3:c.11900C>T	XP_006711871.1:p.Ser3967Leu
XM_006711810.3:c.12044C>T	XP_006711873.1:p.Ser4015Leu
XM_017002028.1:c.12116C>T	XP_016857517.1:p.Ser4039Leu
NM_001035.3:c.12083C>T MANE Select	NP_001026.2:p.Ser4028Leu