Canonical Allele Identifier: CA345409812

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237830611C>T , CM000663.2:g.237830611C>T	GRCh38
NC_000001.10:g.237993911C>T , CM000663.1:g.237993911C>T	GRCh37
NC_000001.9:g.236060534C>T	NCBI36
NG_008799.2:g.793210C>T
NG_008799.3:g.793428C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14737C>T MANE Select	NP_001026.2:p.His4913Tyr
ENST00000366574.7:c.14737C>T MANE Select	ENSP00000355533.2:p.His4913Tyr
NM_001035.2:c.14737C>T	NP_001026.2:p.His4913Tyr
ENST00000360064.7:c.14686C>T	ENSP00000353174.7:p.His4896Tyr
ENST00000366574.6:c.14737C>T	ENSP00000355533.2:p.His4913Tyr
ENST00000462585.1:n.580C>T
ENST00000608590.5:n.1167-903C>T
ENST00000609119.2:c.*5829C>T	ENSP00000499659.2:n.*5829C>T
ENST00000659194.2:c.6908C>T
ENST00000659194.3:c.14719C>T	ENSP00000499653.3:p.His4907Tyr
ENST00000660292.2:c.14758C>T	ENSP00000499787.2:p.His4920Tyr
XM_006711802.2:c.14791C>T	XP_006711865.1:p.His4931Tyr
XM_006711802.3:c.14791C>T	XP_006711865.1:p.His4931Tyr
XM_006711803.2:c.14788C>T	XP_006711866.1:p.His4930Tyr
XM_006711803.3:c.14788C>T	XP_006711866.1:p.His4930Tyr
XM_006711804.2:c.14767C>T	XP_006711867.1:p.His4923Tyr
XM_006711804.3:c.14767C>T	XP_006711867.1:p.His4923Tyr
XM_006711805.2:c.14761C>T	XP_006711868.1:p.His4921Tyr
XM_006711805.3:c.14761C>T	XP_006711868.1:p.His4921Tyr
XM_006711806.2:c.14755C>T	XP_006711869.1:p.His4919Tyr
XM_006711806.3:c.14755C>T	XP_006711869.1:p.His4919Tyr
XM_006711807.2:c.14731C>T	XP_006711870.1:p.His4911Tyr
XM_006711807.3:c.14731C>T	XP_006711870.1:p.His4911Tyr
XM_006711808.2:c.14554C>T	XP_006711871.1:p.His4852Tyr
XM_006711808.3:c.14554C>T	XP_006711871.1:p.His4852Tyr
XM_006711810.2:c.14698C>T	XP_006711873.1:p.His4900Tyr
XM_006711810.3:c.14698C>T	XP_006711873.1:p.His4900Tyr
XM_017002028.1:c.14770C>T	XP_016857517.1:p.His4924Tyr