Canonical Allele Identifier: CA39785932

Gene: RYR2

Linked Data

• ClinVar Variation Id: 1251281
• ClinVar RCV Id: RCV001657218
• dbSNP Id: rs10686135
• gnomAD v2: 1-237580057-C-CAG
• gnomAD v3: 1-237416757-C-CAG
• gnomAD v4: 1-237416757-C-CAG
• MyVariant Identifiers: chr1:g.237580059_237580067delinsGACACACAGAG (hg19) ; chr1:g.237580057_237580058insAG (hg19) ; chr1:g.237416759_237416767delinsGACACACAGAG (hg38) ; chr1:g.237416757_237416758insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237416758_237416759insGA , CM000663.2:g.237416758_237416759insGA	GRCh38
NC_000001.10:g.237580058_237580059insGA , CM000663.1:g.237580058_237580059insGA	GRCh37
NC_000001.9:g.235646681_235646682insGA	NCBI36
NG_008799.2:g.379357_379358insGA
NG_008799.3:g.379575_379576insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.774-291_774-290insGA	ENSP00000499659.2:n.774-291_774-290insGA
ENST00000659194.3:c.774-291_774-290insGA	ENSP00000499653.3:n.774-291_774-290insGA
ENST00000660292.2:c.774-291_774-290insGA	ENSP00000499787.2:n.774-291_774-290insGA
ENST00000366574.7:c.774-291_774-290insGA MANE Select	ENSP00000355533.2:n.774-291_774-290insGA
ENST00000360064.7:c.726-291_726-290insGA	ENSP00000353174.7:n.726-291_726-290insGA
ENST00000366574.6:c.774-291_774-290insGA	ENSP00000355533.2:n.774-291_774-290insGA
NM_001035.2:c.774-291_774-290insGA	NP_001026.2:n.774-291_774-290insGA
XM_006711802.2:c.774-291_774-290insGA	XP_006711865.1:n.774-291_774-290insGA
XM_006711803.2:c.774-291_774-290insGA	XP_006711866.1:n.774-291_774-290insGA
XM_006711804.2:c.774-291_774-290insGA	XP_006711867.1:n.774-291_774-290insGA
XM_006711805.2:c.774-291_774-290insGA	XP_006711868.1:n.774-291_774-290insGA
XM_006711806.2:c.774-291_774-290insGA	XP_006711869.1:n.774-291_774-290insGA
XM_006711807.2:c.774-291_774-290insGA	XP_006711870.1:n.774-291_774-290insGA
XM_006711808.2:c.774-291_774-290insGA	XP_006711871.1:n.774-291_774-290insGA
XM_006711809.2:c.774-291_774-290insGA	XP_006711872.1:n.774-291_774-290insGA
XM_006711810.2:c.774-291_774-290insGA	XP_006711873.1:n.774-291_774-290insGA
XR_949152.1:n.1055-291_1055-290insGA
XM_006711802.3:c.774-291_774-290insGA	XP_006711865.1:n.774-291_774-290insGA
XM_006711803.3:c.774-291_774-290insGA	XP_006711866.1:n.774-291_774-290insGA
XM_006711804.3:c.774-291_774-290insGA	XP_006711867.1:n.774-291_774-290insGA
XM_006711805.3:c.774-291_774-290insGA	XP_006711868.1:n.774-291_774-290insGA
XM_006711806.3:c.774-291_774-290insGA	XP_006711869.1:n.774-291_774-290insGA
XM_006711807.3:c.774-291_774-290insGA	XP_006711870.1:n.774-291_774-290insGA
XM_006711808.3:c.774-291_774-290insGA	XP_006711871.1:n.774-291_774-290insGA
XM_006711810.3:c.774-291_774-290insGA	XP_006711873.1:n.774-291_774-290insGA
XM_017002028.1:c.753-291_753-290insGA	XP_016857517.1:n.753-291_753-290insGA
XR_002957299.1:n.1088-291_1088-290insGA
XR_949152.2:n.1088-291_1088-290insGA
NM_001035.3:c.774-291_774-290insGA MANE Select	NP_001026.2:n.774-291_774-290insGA