Canonical Allele Identifier: CA2487493455

Gene: RYR2

Linked Data

• dbSNP Id: rs1660986035
• gnomAD v4: 1-237809140-TAAAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809144_237809147del , CM000663.2:g.237809144_237809147del	GRCh38
NC_000001.10:g.237972444_237972447del , CM000663.1:g.237972444_237972447del	GRCh37
NC_000001.9:g.236039067_236039070del	NCBI36
NG_008799.2:g.771743_771746del
NG_008799.3:g.771961_771964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5525+109_*5525+112del	ENSP00000499659.2:n.*5525+109_*5525+112del
ENST00000659194.3:c.14415+109_14415+112del	ENSP00000499653.3:n.14415+109_14415+112del
ENST00000660292.2:c.14454+109_14454+112del	ENSP00000499787.2:n.14454+109_14454+112del
ENST00000659194.2:c.6604+109_6604+112del
ENST00000366574.7:c.14433+109_14433+112del MANE Select	ENSP00000355533.2:n.14433+109_14433+112del
ENST00000360064.7:c.14382+109_14382+112del	ENSP00000353174.7:n.14382+109_14382+112del
ENST00000366574.6:c.14433+109_14433+112del	ENSP00000355533.2:n.14433+109_14433+112del
ENST00000608590.5:n.944+109_944+112del
NM_001035.2:c.14433+109_14433+112del	NP_001026.2:n.14433+109_14433+112del
XM_006711802.2:c.14487+109_14487+112del	XP_006711865.1:n.14487+109_14487+112del
XM_006711803.2:c.14484+109_14484+112del	XP_006711866.1:n.14484+109_14484+112del
XM_006711804.2:c.14463+109_14463+112del	XP_006711867.1:n.14463+109_14463+112del
XM_006711805.2:c.14457+109_14457+112del	XP_006711868.1:n.14457+109_14457+112del
XM_006711806.2:c.14451+109_14451+112del	XP_006711869.1:n.14451+109_14451+112del
XM_006711807.2:c.14427+109_14427+112del	XP_006711870.1:n.14427+109_14427+112del
XM_006711808.2:c.14250+109_14250+112del	XP_006711871.1:n.14250+109_14250+112del
XM_006711810.2:c.14394+109_14394+112del	XP_006711873.1:n.14394+109_14394+112del
XM_006711802.3:c.14487+109_14487+112del	XP_006711865.1:n.14487+109_14487+112del
XM_006711803.3:c.14484+109_14484+112del	XP_006711866.1:n.14484+109_14484+112del
XM_006711804.3:c.14463+109_14463+112del	XP_006711867.1:n.14463+109_14463+112del
XM_006711805.3:c.14457+109_14457+112del	XP_006711868.1:n.14457+109_14457+112del
XM_006711806.3:c.14451+109_14451+112del	XP_006711869.1:n.14451+109_14451+112del
XM_006711807.3:c.14427+109_14427+112del	XP_006711870.1:n.14427+109_14427+112del
XM_006711808.3:c.14250+109_14250+112del	XP_006711871.1:n.14250+109_14250+112del
XM_006711810.3:c.14394+109_14394+112del	XP_006711873.1:n.14394+109_14394+112del
XM_017002028.1:c.14466+109_14466+112del	XP_016857517.1:n.14466+109_14466+112del
NM_001035.3:c.14433+109_14433+112del MANE Select	NP_001026.2:n.14433+109_14433+112del