Canonical Allele Identifier: CA345396569

Gene: RYR2

Linked Data

• ClinVar Variation Id: 2172770
• ClinVar RCV Id: RCV002581576 ; RCV004009435
• MyVariant Identifiers: chr1:g.237804215A>T (hg19) ; chr1:g.237640915A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237640915A>T , CM000663.2:g.237640915A>T	GRCh38
NC_000001.10:g.237804215A>T , CM000663.1:g.237804215A>T	GRCh37
NC_000001.9:g.235870838A>T	NCBI36
NG_008799.2:g.603514A>T
NG_008799.3:g.603732A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.7134A>T	ENSP00000499659.2:p.Glu2378Asp
ENST00000659194.3:c.7134A>T	ENSP00000499653.3:p.Glu2378Asp
ENST00000660292.2:c.7134A>T	ENSP00000499787.2:p.Glu2378Asp
ENST00000366574.7:c.7134A>T MANE Select	ENSP00000355533.2:p.Glu2378Asp
ENST00000360064.7:c.7086A>T	ENSP00000353174.7:p.Glu2362Asp
ENST00000366574.6:c.7134A>T	ENSP00000355533.2:p.Glu2378Asp
NM_001035.2:c.7134A>T	NP_001026.2:p.Glu2378Asp
XM_006711802.2:c.7164A>T	XP_006711865.1:p.Glu2388Asp
XM_006711803.2:c.7161A>T	XP_006711866.1:p.Glu2387Asp
XM_006711804.2:c.7164A>T	XP_006711867.1:p.Glu2388Asp
XM_006711805.2:c.7134A>T	XP_006711868.1:p.Glu2378Asp
XM_006711806.2:c.7164A>T	XP_006711869.1:p.Glu2388Asp
XM_006711807.2:c.7164A>T	XP_006711870.1:p.Glu2388Asp
XM_006711808.2:c.7164A>T	XP_006711871.1:p.Glu2388Asp
XM_006711809.2:c.7164A>T	XP_006711872.1:p.Glu2388Asp
XM_006711810.2:c.7131A>T	XP_006711873.1:p.Glu2377Asp
XR_949152.1:n.7445A>T
XM_006711802.3:c.7164A>T	XP_006711865.1:p.Glu2388Asp
XM_006711803.3:c.7161A>T	XP_006711866.1:p.Glu2387Asp
XM_006711804.3:c.7164A>T	XP_006711867.1:p.Glu2388Asp
XM_006711805.3:c.7134A>T	XP_006711868.1:p.Glu2378Asp
XM_006711806.3:c.7164A>T	XP_006711869.1:p.Glu2388Asp
XM_006711807.3:c.7164A>T	XP_006711870.1:p.Glu2388Asp
XM_006711808.3:c.7164A>T	XP_006711871.1:p.Glu2388Asp
XM_006711810.3:c.7131A>T	XP_006711873.1:p.Glu2377Asp
XM_017002028.1:c.7143A>T	XP_016857517.1:p.Glu2381Asp
XR_002957299.1:n.7478A>T
XR_949152.2:n.7478A>T
NM_001035.3:c.7134A>T MANE Select	NP_001026.2:p.Glu2378Asp