Canonical Allele Identifier: CA345409212

Gene: RYR2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2911T>A	ENSP00000499659.2:n.*2911T>A
ENST00000659194.3:c.11807T>A	ENSP00000499653.3:p.Leu3936Gln
ENST00000660292.2:c.11840T>A	ENSP00000499787.2:p.Leu3947Gln
ENST00000659194.2:c.3996T>A
ENST00000366574.7:c.11819T>A MANE Select	ENSP00000355533.2:p.Leu3940Gln
ENST00000659194.1:c.3996T>A
ENST00000660292.1:c.1872T>A
ENST00000360064.7:c.11771T>A	ENSP00000353174.7:p.Leu3924Gln
ENST00000366574.6:c.11819T>A	ENSP00000355533.2:p.Leu3940Gln
ENST00000609119.1:n.3014T>A
NM_001035.2:c.11819T>A	NP_001026.2:p.Leu3940Gln
XM_006711802.2:c.11873T>A	XP_006711865.1:p.Leu3958Gln
XM_006711803.2:c.11870T>A	XP_006711866.1:p.Leu3957Gln
XM_006711804.2:c.11849T>A	XP_006711867.1:p.Leu3950Gln
XM_006711805.2:c.11843T>A	XP_006711868.1:p.Leu3948Gln
XM_006711806.2:c.11837T>A	XP_006711869.1:p.Leu3946Gln
XM_006711807.2:c.11813T>A	XP_006711870.1:p.Leu3938Gln
XM_006711808.2:c.11636T>A	XP_006711871.1:p.Leu3879Gln
XM_006711810.2:c.11780T>A	XP_006711873.1:p.Leu3927Gln
XM_006711802.3:c.11873T>A	XP_006711865.1:p.Leu3958Gln
XM_006711803.3:c.11870T>A	XP_006711866.1:p.Leu3957Gln
XM_006711804.3:c.11849T>A	XP_006711867.1:p.Leu3950Gln
XM_006711805.3:c.11843T>A	XP_006711868.1:p.Leu3948Gln
XM_006711806.3:c.11837T>A	XP_006711869.1:p.Leu3946Gln
XM_006711807.3:c.11813T>A	XP_006711870.1:p.Leu3938Gln
XM_006711808.3:c.11636T>A	XP_006711871.1:p.Leu3879Gln
XM_006711810.3:c.11780T>A	XP_006711873.1:p.Leu3927Gln
XM_017002028.1:c.11852T>A	XP_016857517.1:p.Leu3951Gln
NM_001035.3:c.11819T>A MANE Select	NP_001026.2:p.Leu3940Gln