Canonical Allele Identifier: CA345411078

Gene: RYR2

Linked Data

• COSMIC: COSM3485772 ; COSM3485773
• MyVariant Identifiers: chr1:g.237791232C>T (hg19) ; chr1:g.237627932C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237627932C>T , CM000663.2:g.237627932C>T	GRCh38
NC_000001.10:g.237791232C>T , CM000663.1:g.237791232C>T	GRCh37
NC_000001.9:g.235857855C>T	NCBI36
NG_008799.2:g.590531C>T
NG_008799.3:g.590749C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.6292C>T	ENSP00000499659.2:p.Leu2098Phe
ENST00000659194.3:c.6292C>T	ENSP00000499653.3:p.Leu2098Phe
ENST00000660292.2:c.6292C>T	ENSP00000499787.2:p.Leu2098Phe
ENST00000366574.7:c.6292C>T MANE Select	ENSP00000355533.2:p.Leu2098Phe
ENST00000360064.7:c.6244C>T	ENSP00000353174.7:p.Leu2082Phe
ENST00000366574.6:c.6292C>T	ENSP00000355533.2:p.Leu2098Phe
NM_001035.2:c.6292C>T	NP_001026.2:p.Leu2098Phe
XM_006711802.2:c.6322C>T	XP_006711865.1:p.Leu2108Phe
XM_006711803.2:c.6319C>T	XP_006711866.1:p.Leu2107Phe
XM_006711804.2:c.6322C>T	XP_006711867.1:p.Leu2108Phe
XM_006711805.2:c.6292C>T	XP_006711868.1:p.Leu2098Phe
XM_006711806.2:c.6322C>T	XP_006711869.1:p.Leu2108Phe
XM_006711807.2:c.6322C>T	XP_006711870.1:p.Leu2108Phe
XM_006711808.2:c.6322C>T	XP_006711871.1:p.Leu2108Phe
XM_006711809.2:c.6322C>T	XP_006711872.1:p.Leu2108Phe
XM_006711810.2:c.6289C>T	XP_006711873.1:p.Leu2097Phe
XR_949152.1:n.6603C>T
XM_006711802.3:c.6322C>T	XP_006711865.1:p.Leu2108Phe
XM_006711803.3:c.6319C>T	XP_006711866.1:p.Leu2107Phe
XM_006711804.3:c.6322C>T	XP_006711867.1:p.Leu2108Phe
XM_006711805.3:c.6292C>T	XP_006711868.1:p.Leu2098Phe
XM_006711806.3:c.6322C>T	XP_006711869.1:p.Leu2108Phe
XM_006711807.3:c.6322C>T	XP_006711870.1:p.Leu2108Phe
XM_006711808.3:c.6322C>T	XP_006711871.1:p.Leu2108Phe
XM_006711810.3:c.6289C>T	XP_006711873.1:p.Leu2097Phe
XM_017002028.1:c.6301C>T	XP_016857517.1:p.Leu2101Phe
XR_002957299.1:n.6636C>T
XR_949152.2:n.6636C>T
NM_001035.3:c.6292C>T MANE Select	NP_001026.2:p.Leu2098Phe