Canonical Allele Identifier: CA733337787

Gene: RYR2

Linked Data

• dbSNP Id: rs1196638869
• gnomAD v3: 1-237809093-A-AAGTAATTGTGTATTTAT
• gnomAD v4: 1-237809093-A-AAGTAATTGTGTATTTAT
• MyVariant Identifiers: chr1:g.237972393_237972394insAGTAATTGTGTATTTAT (hg19) ; chr1:g.237809093_237809094insAGTAATTGTGTATTTAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809094_237809110dup , CM000663.2:g.237809094_237809110dup	GRCh38
NC_000001.10:g.237972394_237972410dup , CM000663.1:g.237972394_237972410dup	GRCh37
NC_000001.9:g.236039017_236039033dup	NCBI36
NG_008799.2:g.771693_771709dup
NG_008799.3:g.771911_771927dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5525+59_*5525+75dup	ENSP00000499659.2:n.*5525+59_*5525+75dup
ENST00000659194.3:c.14415+59_14415+75dup	ENSP00000499653.3:n.14415+59_14415+75dup
ENST00000660292.2:c.14454+59_14454+75dup	ENSP00000499787.2:n.14454+59_14454+75dup
ENST00000659194.2:c.6604+59_6604+75dup
ENST00000366574.7:c.14433+59_14433+75dup MANE Select	ENSP00000355533.2:n.14433+59_14433+75dup
ENST00000360064.7:c.14382+59_14382+75dup	ENSP00000353174.7:n.14382+59_14382+75dup
ENST00000366574.6:c.14433+59_14433+75dup	ENSP00000355533.2:n.14433+59_14433+75dup
ENST00000608590.5:n.944+59_944+75dup
NM_001035.2:c.14433+59_14433+75dup	NP_001026.2:n.14433+59_14433+75dup
XM_006711802.2:c.14487+59_14487+75dup	XP_006711865.1:n.14487+59_14487+75dup
XM_006711803.2:c.14484+59_14484+75dup	XP_006711866.1:n.14484+59_14484+75dup
XM_006711804.2:c.14463+59_14463+75dup	XP_006711867.1:n.14463+59_14463+75dup
XM_006711805.2:c.14457+59_14457+75dup	XP_006711868.1:n.14457+59_14457+75dup
XM_006711806.2:c.14451+59_14451+75dup	XP_006711869.1:n.14451+59_14451+75dup
XM_006711807.2:c.14427+59_14427+75dup	XP_006711870.1:n.14427+59_14427+75dup
XM_006711808.2:c.14250+59_14250+75dup	XP_006711871.1:n.14250+59_14250+75dup
XM_006711810.2:c.14394+59_14394+75dup	XP_006711873.1:n.14394+59_14394+75dup
XM_006711802.3:c.14487+59_14487+75dup	XP_006711865.1:n.14487+59_14487+75dup
XM_006711803.3:c.14484+59_14484+75dup	XP_006711866.1:n.14484+59_14484+75dup
XM_006711804.3:c.14463+59_14463+75dup	XP_006711867.1:n.14463+59_14463+75dup
XM_006711805.3:c.14457+59_14457+75dup	XP_006711868.1:n.14457+59_14457+75dup
XM_006711806.3:c.14451+59_14451+75dup	XP_006711869.1:n.14451+59_14451+75dup
XM_006711807.3:c.14427+59_14427+75dup	XP_006711870.1:n.14427+59_14427+75dup
XM_006711808.3:c.14250+59_14250+75dup	XP_006711871.1:n.14250+59_14250+75dup
XM_006711810.3:c.14394+59_14394+75dup	XP_006711873.1:n.14394+59_14394+75dup
XM_017002028.1:c.14466+59_14466+75dup	XP_016857517.1:n.14466+59_14466+75dup
NM_001035.3:c.14433+59_14433+75dup MANE Select	NP_001026.2:n.14433+59_14433+75dup