Canonical Allele Identifier: CA345409218

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237942009T>G (hg19) ; chr1:g.237778709T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237778709T>G , CM000663.2:g.237778709T>G	GRCh38
NC_000001.10:g.237942009T>G , CM000663.1:g.237942009T>G	GRCh37
NC_000001.9:g.236008632T>G	NCBI36
NG_008799.2:g.741308T>G
NG_008799.3:g.741526T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2911T>G	ENSP00000499659.2:n.*2911T>G
ENST00000659194.3:c.11807T>G	ENSP00000499653.3:p.Leu3936Arg
ENST00000660292.2:c.11840T>G	ENSP00000499787.2:p.Leu3947Arg
ENST00000659194.2:c.3996T>G
ENST00000366574.7:c.11819T>G MANE Select	ENSP00000355533.2:p.Leu3940Arg
ENST00000659194.1:c.3996T>G
ENST00000660292.1:c.1872T>G
ENST00000360064.7:c.11771T>G	ENSP00000353174.7:p.Leu3924Arg
ENST00000366574.6:c.11819T>G	ENSP00000355533.2:p.Leu3940Arg
ENST00000609119.1:n.3014T>G
NM_001035.2:c.11819T>G	NP_001026.2:p.Leu3940Arg
XM_006711802.2:c.11873T>G	XP_006711865.1:p.Leu3958Arg
XM_006711803.2:c.11870T>G	XP_006711866.1:p.Leu3957Arg
XM_006711804.2:c.11849T>G	XP_006711867.1:p.Leu3950Arg
XM_006711805.2:c.11843T>G	XP_006711868.1:p.Leu3948Arg
XM_006711806.2:c.11837T>G	XP_006711869.1:p.Leu3946Arg
XM_006711807.2:c.11813T>G	XP_006711870.1:p.Leu3938Arg
XM_006711808.2:c.11636T>G	XP_006711871.1:p.Leu3879Arg
XM_006711810.2:c.11780T>G	XP_006711873.1:p.Leu3927Arg
XM_006711802.3:c.11873T>G	XP_006711865.1:p.Leu3958Arg
XM_006711803.3:c.11870T>G	XP_006711866.1:p.Leu3957Arg
XM_006711804.3:c.11849T>G	XP_006711867.1:p.Leu3950Arg
XM_006711805.3:c.11843T>G	XP_006711868.1:p.Leu3948Arg
XM_006711806.3:c.11837T>G	XP_006711869.1:p.Leu3946Arg
XM_006711807.3:c.11813T>G	XP_006711870.1:p.Leu3938Arg
XM_006711808.3:c.11636T>G	XP_006711871.1:p.Leu3879Arg
XM_006711810.3:c.11780T>G	XP_006711873.1:p.Leu3927Arg
XM_017002028.1:c.11852T>G	XP_016857517.1:p.Leu3951Arg
NM_001035.3:c.11819T>G MANE Select	NP_001026.2:p.Leu3940Arg