Canonical Allele Identifier: CA345409207

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237942008C>A (hg19) ; chr1:g.237778708C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237778708C>A , CM000663.2:g.237778708C>A	GRCh38
NC_000001.10:g.237942008C>A , CM000663.1:g.237942008C>A	GRCh37
NC_000001.9:g.236008631C>A	NCBI36
NG_008799.2:g.741307C>A
NG_008799.3:g.741525C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2910C>A	ENSP00000499659.2:n.*2910C>A
ENST00000659194.3:c.11806C>A	ENSP00000499653.3:p.Leu3936Met
ENST00000660292.2:c.11839C>A	ENSP00000499787.2:p.Leu3947Met
ENST00000659194.2:c.3995C>A
ENST00000366574.7:c.11818C>A MANE Select	ENSP00000355533.2:p.Leu3940Met
ENST00000659194.1:c.3995C>A
ENST00000660292.1:c.1871C>A
ENST00000360064.7:c.11770C>A	ENSP00000353174.7:p.Leu3924Met
ENST00000366574.6:c.11818C>A	ENSP00000355533.2:p.Leu3940Met
ENST00000609119.1:n.3013C>A
NM_001035.2:c.11818C>A	NP_001026.2:p.Leu3940Met
XM_006711802.2:c.11872C>A	XP_006711865.1:p.Leu3958Met
XM_006711803.2:c.11869C>A	XP_006711866.1:p.Leu3957Met
XM_006711804.2:c.11848C>A	XP_006711867.1:p.Leu3950Met
XM_006711805.2:c.11842C>A	XP_006711868.1:p.Leu3948Met
XM_006711806.2:c.11836C>A	XP_006711869.1:p.Leu3946Met
XM_006711807.2:c.11812C>A	XP_006711870.1:p.Leu3938Met
XM_006711808.2:c.11635C>A	XP_006711871.1:p.Leu3879Met
XM_006711810.2:c.11779C>A	XP_006711873.1:p.Leu3927Met
XM_006711802.3:c.11872C>A	XP_006711865.1:p.Leu3958Met
XM_006711803.3:c.11869C>A	XP_006711866.1:p.Leu3957Met
XM_006711804.3:c.11848C>A	XP_006711867.1:p.Leu3950Met
XM_006711805.3:c.11842C>A	XP_006711868.1:p.Leu3948Met
XM_006711806.3:c.11836C>A	XP_006711869.1:p.Leu3946Met
XM_006711807.3:c.11812C>A	XP_006711870.1:p.Leu3938Met
XM_006711808.3:c.11635C>A	XP_006711871.1:p.Leu3879Met
XM_006711810.3:c.11779C>A	XP_006711873.1:p.Leu3927Met
XM_017002028.1:c.11851C>A	XP_016857517.1:p.Leu3951Met
NM_001035.3:c.11818C>A MANE Select	NP_001026.2:p.Leu3940Met