Canonical Allele Identifier: CA345403706

Gene: RYR2

Linked Data

• gnomAD v4: 1-237678099-A-T
• MyVariant Identifiers: chr1:g.237841399A>T (hg19) ; chr1:g.237678099A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237678099A>T , CM000663.2:g.237678099A>T	GRCh38
NC_000001.10:g.237841399A>T , CM000663.1:g.237841399A>T	GRCh37
NC_000001.9:g.235908022A>T	NCBI36
NG_008799.2:g.640698A>T
NG_008799.3:g.640916A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.8831-2357A>T	ENSP00000499659.2:n.8831-2357A>T
ENST00000659194.3:c.8882A>T	ENSP00000499653.3:p.Lys2961Met
ENST00000660292.2:c.8882A>T	ENSP00000499787.2:p.Lys2961Met
ENST00000659194.2:c.1071A>T
ENST00000366574.7:c.8882A>T MANE Select	ENSP00000355533.2:p.Lys2961Met
ENST00000659194.1:c.1071A>T
ENST00000360064.7:c.8834A>T	ENSP00000353174.7:p.Lys2945Met
ENST00000366574.6:c.8882A>T	ENSP00000355533.2:p.Lys2961Met
ENST00000609119.1:n.84-2357A>T
NM_001035.2:c.8882A>T	NP_001026.2:p.Lys2961Met
XM_006711802.2:c.8912A>T	XP_006711865.1:p.Lys2971Met
XM_006711803.2:c.8909A>T	XP_006711866.1:p.Lys2970Met
XM_006711804.2:c.8912A>T	XP_006711867.1:p.Lys2971Met
XM_006711805.2:c.8882A>T	XP_006711868.1:p.Lys2961Met
XM_006711806.2:c.8912A>T	XP_006711869.1:p.Lys2971Met
XM_006711807.2:c.8912A>T	XP_006711870.1:p.Lys2971Met
XM_006711808.2:c.8860+3253A>T	XP_006711871.1:n.8860+3253A>T
XM_006711810.2:c.8879A>T	XP_006711873.1:p.Lys2960Met
XR_949152.1:n.9193A>T
XM_006711802.3:c.8912A>T	XP_006711865.1:p.Lys2971Met
XM_006711803.3:c.8909A>T	XP_006711866.1:p.Lys2970Met
XM_006711804.3:c.8912A>T	XP_006711867.1:p.Lys2971Met
XM_006711805.3:c.8882A>T	XP_006711868.1:p.Lys2961Met
XM_006711806.3:c.8912A>T	XP_006711869.1:p.Lys2971Met
XM_006711807.3:c.8912A>T	XP_006711870.1:p.Lys2971Met
XM_006711808.3:c.8860+3253A>T	XP_006711871.1:n.8860+3253A>T
XM_006711810.3:c.8879A>T	XP_006711873.1:p.Lys2960Met
XM_017002028.1:c.8891A>T	XP_016857517.1:p.Lys2964Met
XR_949152.2:n.9226A>T
NM_001035.3:c.8882A>T MANE Select	NP_001026.2:p.Lys2961Met