Canonical Allele Identifier: CA345424282

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972266T>A (hg19) ; chr1:g.237808966T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808966T>A , CM000663.2:g.237808966T>A	GRCh38
NC_000001.10:g.237972266T>A , CM000663.1:g.237972266T>A	GRCh37
NC_000001.9:g.236038889T>A	NCBI36
NG_008799.2:g.771565T>A
NG_008799.3:g.771783T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5456T>A	ENSP00000499659.2:n.*5456T>A
ENST00000659194.3:c.14346T>A	ENSP00000499653.3:p.Phe4782Leu
ENST00000660292.2:c.14385T>A	ENSP00000499787.2:p.Phe4795Leu
ENST00000659194.2:c.6535T>A
ENST00000366574.7:c.14364T>A MANE Select	ENSP00000355533.2:p.Phe4788Leu
ENST00000360064.7:c.14313T>A	ENSP00000353174.7:p.Phe4771Leu
ENST00000366574.6:c.14364T>A	ENSP00000355533.2:p.Phe4788Leu
ENST00000608590.5:n.875T>A
NM_001035.2:c.14364T>A	NP_001026.2:p.Phe4788Leu
XM_006711802.2:c.14418T>A	XP_006711865.1:p.Phe4806Leu
XM_006711803.2:c.14415T>A	XP_006711866.1:p.Phe4805Leu
XM_006711804.2:c.14394T>A	XP_006711867.1:p.Phe4798Leu
XM_006711805.2:c.14388T>A	XP_006711868.1:p.Phe4796Leu
XM_006711806.2:c.14382T>A	XP_006711869.1:p.Phe4794Leu
XM_006711807.2:c.14358T>A	XP_006711870.1:p.Phe4786Leu
XM_006711808.2:c.14181T>A	XP_006711871.1:p.Phe4727Leu
XM_006711810.2:c.14325T>A	XP_006711873.1:p.Phe4775Leu
XM_006711802.3:c.14418T>A	XP_006711865.1:p.Phe4806Leu
XM_006711803.3:c.14415T>A	XP_006711866.1:p.Phe4805Leu
XM_006711804.3:c.14394T>A	XP_006711867.1:p.Phe4798Leu
XM_006711805.3:c.14388T>A	XP_006711868.1:p.Phe4796Leu
XM_006711806.3:c.14382T>A	XP_006711869.1:p.Phe4794Leu
XM_006711807.3:c.14358T>A	XP_006711870.1:p.Phe4786Leu
XM_006711808.3:c.14181T>A	XP_006711871.1:p.Phe4727Leu
XM_006711810.3:c.14325T>A	XP_006711873.1:p.Phe4775Leu
XM_017002028.1:c.14397T>A	XP_016857517.1:p.Phe4799Leu
NM_001035.3:c.14364T>A MANE Select	NP_001026.2:p.Phe4788Leu