Canonical Allele Identifier: CA2573051533

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237798030C>T , CM000663.2:g.237798030C>T	GRCh38
NC_000001.10:g.237961330C>T , CM000663.1:g.237961330C>T	GRCh37
NC_000001.9:g.236027953C>T	NCBI36
NG_008799.2:g.760629C>T
NG_008799.3:g.760847C>T

Transcript Alleles

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