Canonical Allele Identifier: CA345418013

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237793882T>C , CM000663.2:g.237793882T>C	GRCh38
NC_000001.10:g.237957182T>C , CM000663.1:g.237957182T>C	GRCh37
NC_000001.9:g.236023805T>C	NCBI36
NG_008799.2:g.756481T>C
NG_008799.3:g.756699T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13798T>C MANE Select	NP_001026.2:p.Phe4600Leu
ENST00000366574.7:c.13798T>C MANE Select	ENSP00000355533.2:p.Phe4600Leu
NM_001035.2:c.13798T>C	NP_001026.2:p.Phe4600Leu
ENST00000360064.7:c.13747T>C	ENSP00000353174.7:p.Phe4583Leu
ENST00000366574.6:c.13798T>C	ENSP00000355533.2:p.Phe4600Leu
ENST00000608590.5:n.309T>C
ENST00000609119.2:c.*4890T>C	ENSP00000499659.2:n.*4890T>C
ENST00000659194.2:c.5969T>C
ENST00000659194.3:c.13780T>C	ENSP00000499653.3:p.Phe4594Leu
ENST00000660292.1:c.3851T>C
ENST00000660292.2:c.13819T>C	ENSP00000499787.2:p.Phe4607Leu
XM_006711802.2:c.13852T>C	XP_006711865.1:p.Phe4618Leu
XM_006711802.3:c.13852T>C	XP_006711865.1:p.Phe4618Leu
XM_006711803.2:c.13849T>C	XP_006711866.1:p.Phe4617Leu
XM_006711803.3:c.13849T>C	XP_006711866.1:p.Phe4617Leu
XM_006711804.2:c.13828T>C	XP_006711867.1:p.Phe4610Leu
XM_006711804.3:c.13828T>C	XP_006711867.1:p.Phe4610Leu
XM_006711805.2:c.13822T>C	XP_006711868.1:p.Phe4608Leu
XM_006711805.3:c.13822T>C	XP_006711868.1:p.Phe4608Leu
XM_006711806.2:c.13816T>C	XP_006711869.1:p.Phe4606Leu
XM_006711806.3:c.13816T>C	XP_006711869.1:p.Phe4606Leu
XM_006711807.2:c.13792T>C	XP_006711870.1:p.Phe4598Leu
XM_006711807.3:c.13792T>C	XP_006711870.1:p.Phe4598Leu
XM_006711808.2:c.13615T>C	XP_006711871.1:p.Phe4539Leu
XM_006711808.3:c.13615T>C	XP_006711871.1:p.Phe4539Leu
XM_006711810.2:c.13759T>C	XP_006711873.1:p.Phe4587Leu
XM_006711810.3:c.13759T>C	XP_006711873.1:p.Phe4587Leu
XM_017002028.1:c.13831T>C	XP_016857517.1:p.Phe4611Leu