Canonical Allele Identifier: CA085537

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237798032C>G , CM000663.2:g.237798032C>G	GRCh38
NC_000001.10:g.237961332C>G , CM000663.1:g.237961332C>G	GRCh37
NC_000001.9:g.236027955C>G	NCBI36
NG_008799.2:g.760631C>G
NG_008799.3:g.760849C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5049-5C>G	ENSP00000499659.2:n.*5049-5C>G
ENST00000659194.3:c.13939-5C>G	ENSP00000499653.3:n.13939-5C>G
ENST00000660292.2:c.13978-5C>G	ENSP00000499787.2:n.13978-5C>G
ENST00000659194.2:c.6128-5C>G
ENST00000366574.7:c.13957-5C>G MANE Select	ENSP00000355533.2:n.13957-5C>G
ENST00000360064.7:c.13906-5C>G	ENSP00000353174.7:n.13906-5C>G
ENST00000366574.6:c.13957-5C>G	ENSP00000355533.2:n.13957-5C>G
ENST00000608590.5:n.468-5C>G
NM_001035.2:c.13957-5C>G	NP_001026.2:n.13957-5C>G
XM_006711802.2:c.14011-5C>G	XP_006711865.1:n.14011-5C>G
XM_006711803.2:c.14008-5C>G	XP_006711866.1:n.14008-5C>G
XM_006711804.2:c.13987-5C>G	XP_006711867.1:n.13987-5C>G
XM_006711805.2:c.13981-5C>G	XP_006711868.1:n.13981-5C>G
XM_006711806.2:c.13975-5C>G	XP_006711869.1:n.13975-5C>G
XM_006711807.2:c.13951-5C>G	XP_006711870.1:n.13951-5C>G
XM_006711808.2:c.13774-5C>G	XP_006711871.1:n.13774-5C>G
XM_006711810.2:c.13918-5C>G	XP_006711873.1:n.13918-5C>G
XM_006711802.3:c.14011-5C>G	XP_006711865.1:n.14011-5C>G
XM_006711803.3:c.14008-5C>G	XP_006711866.1:n.14008-5C>G
XM_006711804.3:c.13987-5C>G	XP_006711867.1:n.13987-5C>G
XM_006711805.3:c.13981-5C>G	XP_006711868.1:n.13981-5C>G
XM_006711806.3:c.13975-5C>G	XP_006711869.1:n.13975-5C>G
XM_006711807.3:c.13951-5C>G	XP_006711870.1:n.13951-5C>G
XM_006711808.3:c.13774-5C>G	XP_006711871.1:n.13774-5C>G
XM_006711810.3:c.13918-5C>G	XP_006711873.1:n.13918-5C>G
XM_017002028.1:c.13990-5C>G	XP_016857517.1:n.13990-5C>G
NM_001035.3:c.13957-5C>G MANE Select	NP_001026.2:n.13957-5C>G