Canonical Allele Identifier: CA345413541

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947534T>A (hg19) ; chr1:g.237784234T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784234T>A , CM000663.2:g.237784234T>A	GRCh38
NC_000001.10:g.237947534T>A , CM000663.1:g.237947534T>A	GRCh37
NC_000001.9:g.236014157T>A	NCBI36
NG_008799.2:g.746833T>A
NG_008799.3:g.747051T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3614T>A	ENSP00000499659.2:n.*3614T>A
ENST00000659194.3:c.12510T>A	ENSP00000499653.3:p.Phe4170Leu
ENST00000660292.2:c.12543T>A	ENSP00000499787.2:p.Phe4181Leu
ENST00000659194.2:c.4699T>A
ENST00000366574.7:c.12522T>A MANE Select	ENSP00000355533.2:p.Phe4174Leu
ENST00000659194.1:c.4699T>A
ENST00000660292.1:c.2575T>A
ENST00000360064.7:c.12474T>A	ENSP00000353174.7:p.Phe4158Leu
ENST00000366574.6:c.12522T>A	ENSP00000355533.2:p.Phe4174Leu
ENST00000609119.1:n.3717T>A
NM_001035.2:c.12522T>A	NP_001026.2:p.Phe4174Leu
XM_006711802.2:c.12576T>A	XP_006711865.1:p.Phe4192Leu
XM_006711803.2:c.12573T>A	XP_006711866.1:p.Phe4191Leu
XM_006711804.2:c.12552T>A	XP_006711867.1:p.Phe4184Leu
XM_006711805.2:c.12546T>A	XP_006711868.1:p.Phe4182Leu
XM_006711806.2:c.12540T>A	XP_006711869.1:p.Phe4180Leu
XM_006711807.2:c.12516T>A	XP_006711870.1:p.Phe4172Leu
XM_006711808.2:c.12339T>A	XP_006711871.1:p.Phe4113Leu
XM_006711810.2:c.12483T>A	XP_006711873.1:p.Phe4161Leu
XM_006711802.3:c.12576T>A	XP_006711865.1:p.Phe4192Leu
XM_006711803.3:c.12573T>A	XP_006711866.1:p.Phe4191Leu
XM_006711804.3:c.12552T>A	XP_006711867.1:p.Phe4184Leu
XM_006711805.3:c.12546T>A	XP_006711868.1:p.Phe4182Leu
XM_006711806.3:c.12540T>A	XP_006711869.1:p.Phe4180Leu
XM_006711807.3:c.12516T>A	XP_006711870.1:p.Phe4172Leu
XM_006711808.3:c.12339T>A	XP_006711871.1:p.Phe4113Leu
XM_006711810.3:c.12483T>A	XP_006711873.1:p.Phe4161Leu
XM_017002028.1:c.12555T>A	XP_016857517.1:p.Phe4185Leu
NM_001035.3:c.12522T>A MANE Select	NP_001026.2:p.Phe4174Leu