Canonical Allele Identifier: CA345426888

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237819192G>T , CM000663.2:g.237819192G>T	GRCh38
NC_000001.10:g.237982492G>T , CM000663.1:g.237982492G>T	GRCh37
NC_000001.9:g.236049115G>T	NCBI36
NG_008799.2:g.781791G>T
NG_008799.3:g.782009G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5682G>T	ENSP00000499659.2:n.*5682G>T
ENST00000659194.3:c.14572G>T	ENSP00000499653.3:p.Gly4858Cys
ENST00000660292.2:c.14611G>T	ENSP00000499787.2:p.Gly4871Cys
ENST00000659194.2:c.6761G>T
ENST00000366574.7:c.14590G>T MANE Select	ENSP00000355533.2:p.Gly4864Cys
ENST00000360064.7:c.14539G>T	ENSP00000353174.7:p.Gly4847Cys
ENST00000366574.6:c.14590G>T	ENSP00000355533.2:p.Gly4864Cys
ENST00000608590.5:n.1101G>T
NM_001035.2:c.14590G>T	NP_001026.2:p.Gly4864Cys
XM_006711802.2:c.14644G>T	XP_006711865.1:p.Gly4882Cys
XM_006711803.2:c.14641G>T	XP_006711866.1:p.Gly4881Cys
XM_006711804.2:c.14620G>T	XP_006711867.1:p.Gly4874Cys
XM_006711805.2:c.14614G>T	XP_006711868.1:p.Gly4872Cys
XM_006711806.2:c.14608G>T	XP_006711869.1:p.Gly4870Cys
XM_006711807.2:c.14584G>T	XP_006711870.1:p.Gly4862Cys
XM_006711808.2:c.14407G>T	XP_006711871.1:p.Gly4803Cys
XM_006711810.2:c.14551G>T	XP_006711873.1:p.Gly4851Cys
XM_006711802.3:c.14644G>T	XP_006711865.1:p.Gly4882Cys
XM_006711803.3:c.14641G>T	XP_006711866.1:p.Gly4881Cys
XM_006711804.3:c.14620G>T	XP_006711867.1:p.Gly4874Cys
XM_006711805.3:c.14614G>T	XP_006711868.1:p.Gly4872Cys
XM_006711806.3:c.14608G>T	XP_006711869.1:p.Gly4870Cys
XM_006711807.3:c.14584G>T	XP_006711870.1:p.Gly4862Cys
XM_006711808.3:c.14407G>T	XP_006711871.1:p.Gly4803Cys
XM_006711810.3:c.14551G>T	XP_006711873.1:p.Gly4851Cys
XM_017002028.1:c.14623G>T	XP_016857517.1:p.Gly4875Cys
NM_001035.3:c.14590G>T MANE Select	NP_001026.2:p.Gly4864Cys