Canonical Allele Identifier: CA006488

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237708973C>T , CM000663.2:g.237708973C>T	GRCh38
NC_000001.10:g.237872273C>T , CM000663.1:g.237872273C>T	GRCh37
NC_000001.9:g.235938896C>T	NCBI36
NG_008799.2:g.671572C>T
NG_008799.3:g.671790C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*1052C>T	ENSP00000499659.2:n.*1052C>T
ENST00000659194.3:c.10017C>T	ENSP00000499653.3:p.His3339=
ENST00000660292.2:c.10017C>T	ENSP00000499787.2:p.His3339=
ENST00000659194.2:c.2206C>T
ENST00000366574.7:c.10017C>T MANE Select	ENSP00000355533.2:p.His3339=
ENST00000659194.1:c.2206C>T
ENST00000660292.1:c.49C>T
ENST00000360064.7:c.9969C>T	ENSP00000353174.7:p.His3323=
ENST00000366574.6:c.10017C>T	ENSP00000355533.2:p.His3339=
ENST00000609119.1:n.1155C>T
NM_001035.2:c.10017C>T	NP_001026.2:p.His3339=
XM_006711802.2:c.10047C>T	XP_006711865.1:p.His3349=
XM_006711803.2:c.10044C>T	XP_006711866.1:p.His3348=
XM_006711804.2:c.10047C>T	XP_006711867.1:p.His3349=
XM_006711805.2:c.10017C>T	XP_006711868.1:p.His3339=
XM_006711806.2:c.10047C>T	XP_006711869.1:p.His3349=
XM_006711807.2:c.10047C>T	XP_006711870.1:p.His3349=
XM_006711808.2:c.9810C>T	XP_006711871.1:p.His3270=
XM_006711810.2:c.10014C>T	XP_006711873.1:p.His3338=
XM_006711802.3:c.10047C>T	XP_006711865.1:p.His3349=
XM_006711803.3:c.10044C>T	XP_006711866.1:p.His3348=
XM_006711804.3:c.10047C>T	XP_006711867.1:p.His3349=
XM_006711805.3:c.10017C>T	XP_006711868.1:p.His3339=
XM_006711806.3:c.10047C>T	XP_006711869.1:p.His3349=
XM_006711807.3:c.10047C>T	XP_006711870.1:p.His3349=
XM_006711808.3:c.9810C>T	XP_006711871.1:p.His3270=
XM_006711810.3:c.10014C>T	XP_006711873.1:p.His3338=
XM_017002028.1:c.10026C>T	XP_016857517.1:p.His3342=
NM_001035.3:c.10017C>T MANE Select	NP_001026.2:p.His3339=