Canonical Allele Identifier: CA345413753

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947628A>T (hg19) ; chr1:g.237784328A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784328A>T , CM000663.2:g.237784328A>T	GRCh38
NC_000001.10:g.237947628A>T , CM000663.1:g.237947628A>T	GRCh37
NC_000001.9:g.236014251A>T	NCBI36
NG_008799.2:g.746927A>T
NG_008799.3:g.747145A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3708A>T	ENSP00000499659.2:n.*3708A>T
ENST00000659194.3:c.12604A>T	ENSP00000499653.3:p.Ile4202Phe
ENST00000660292.2:c.12637A>T	ENSP00000499787.2:p.Ile4213Phe
ENST00000659194.2:c.4793A>T
ENST00000366574.7:c.12616A>T MANE Select	ENSP00000355533.2:p.Ile4206Phe
ENST00000659194.1:c.4793A>T
ENST00000660292.1:c.2669A>T
ENST00000360064.7:c.12568A>T	ENSP00000353174.7:p.Ile4190Phe
ENST00000366574.6:c.12616A>T	ENSP00000355533.2:p.Ile4206Phe
ENST00000609119.1:n.3811A>T
NM_001035.2:c.12616A>T	NP_001026.2:p.Ile4206Phe
XM_006711802.2:c.12670A>T	XP_006711865.1:p.Ile4224Phe
XM_006711803.2:c.12667A>T	XP_006711866.1:p.Ile4223Phe
XM_006711804.2:c.12646A>T	XP_006711867.1:p.Ile4216Phe
XM_006711805.2:c.12640A>T	XP_006711868.1:p.Ile4214Phe
XM_006711806.2:c.12634A>T	XP_006711869.1:p.Ile4212Phe
XM_006711807.2:c.12610A>T	XP_006711870.1:p.Ile4204Phe
XM_006711808.2:c.12433A>T	XP_006711871.1:p.Ile4145Phe
XM_006711810.2:c.12577A>T	XP_006711873.1:p.Ile4193Phe
XM_006711802.3:c.12670A>T	XP_006711865.1:p.Ile4224Phe
XM_006711803.3:c.12667A>T	XP_006711866.1:p.Ile4223Phe
XM_006711804.3:c.12646A>T	XP_006711867.1:p.Ile4216Phe
XM_006711805.3:c.12640A>T	XP_006711868.1:p.Ile4214Phe
XM_006711806.3:c.12634A>T	XP_006711869.1:p.Ile4212Phe
XM_006711807.3:c.12610A>T	XP_006711870.1:p.Ile4204Phe
XM_006711808.3:c.12433A>T	XP_006711871.1:p.Ile4145Phe
XM_006711810.3:c.12577A>T	XP_006711873.1:p.Ile4193Phe
XM_017002028.1:c.12649A>T	XP_016857517.1:p.Ile4217Phe
NM_001035.3:c.12616A>T MANE Select	NP_001026.2:p.Ile4206Phe