Canonical Allele Identifier: CA345413468

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947505G>T (hg19) ; chr1:g.237784205G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784205G>T , CM000663.2:g.237784205G>T	GRCh38
NC_000001.10:g.237947505G>T , CM000663.1:g.237947505G>T	GRCh37
NC_000001.9:g.236014128G>T	NCBI36
NG_008799.2:g.746804G>T
NG_008799.3:g.747022G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3585G>T	ENSP00000499659.2:n.*3585G>T
ENST00000659194.3:c.12481G>T	ENSP00000499653.3:p.Val4161Phe
ENST00000660292.2:c.12514G>T	ENSP00000499787.2:p.Val4172Phe
ENST00000659194.2:c.4670G>T
ENST00000366574.7:c.12493G>T MANE Select	ENSP00000355533.2:p.Val4165Phe
ENST00000659194.1:c.4670G>T
ENST00000660292.1:c.2546G>T
ENST00000360064.7:c.12445G>T	ENSP00000353174.7:p.Val4149Phe
ENST00000366574.6:c.12493G>T	ENSP00000355533.2:p.Val4165Phe
ENST00000609119.1:n.3688G>T
NM_001035.2:c.12493G>T	NP_001026.2:p.Val4165Phe
XM_006711802.2:c.12547G>T	XP_006711865.1:p.Val4183Phe
XM_006711803.2:c.12544G>T	XP_006711866.1:p.Val4182Phe
XM_006711804.2:c.12523G>T	XP_006711867.1:p.Val4175Phe
XM_006711805.2:c.12517G>T	XP_006711868.1:p.Val4173Phe
XM_006711806.2:c.12511G>T	XP_006711869.1:p.Val4171Phe
XM_006711807.2:c.12487G>T	XP_006711870.1:p.Val4163Phe
XM_006711808.2:c.12310G>T	XP_006711871.1:p.Val4104Phe
XM_006711810.2:c.12454G>T	XP_006711873.1:p.Val4152Phe
XM_006711802.3:c.12547G>T	XP_006711865.1:p.Val4183Phe
XM_006711803.3:c.12544G>T	XP_006711866.1:p.Val4182Phe
XM_006711804.3:c.12523G>T	XP_006711867.1:p.Val4175Phe
XM_006711805.3:c.12517G>T	XP_006711868.1:p.Val4173Phe
XM_006711806.3:c.12511G>T	XP_006711869.1:p.Val4171Phe
XM_006711807.3:c.12487G>T	XP_006711870.1:p.Val4163Phe
XM_006711808.3:c.12310G>T	XP_006711871.1:p.Val4104Phe
XM_006711810.3:c.12454G>T	XP_006711873.1:p.Val4152Phe
XM_017002028.1:c.12526G>T	XP_016857517.1:p.Val4176Phe
NM_001035.3:c.12493G>T MANE Select	NP_001026.2:p.Val4165Phe