Canonical Allele Identifier: CA2651216751

Gene: RYR2

Linked Data

• gnomAD v4: 1-237809062-TAAACA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809066_237809070del , CM000663.2:g.237809066_237809070del	GRCh38
NC_000001.10:g.237972366_237972370del , CM000663.1:g.237972366_237972370del	GRCh37
NC_000001.9:g.236038989_236038993del	NCBI36
NG_008799.2:g.771665_771669del
NG_008799.3:g.771883_771887del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5525+31_*5525+35del	ENSP00000499659.2:n.*5525+31_*5525+35del
ENST00000659194.3:c.14415+31_14415+35del	ENSP00000499653.3:n.14415+31_14415+35del
ENST00000660292.2:c.14454+31_14454+35del	ENSP00000499787.2:n.14454+31_14454+35del
ENST00000659194.2:c.6604+31_6604+35del
ENST00000366574.7:c.14433+31_14433+35del MANE Select	ENSP00000355533.2:n.14433+31_14433+35del
ENST00000360064.7:c.14382+31_14382+35del	ENSP00000353174.7:n.14382+31_14382+35del
ENST00000366574.6:c.14433+31_14433+35del	ENSP00000355533.2:n.14433+31_14433+35del
ENST00000608590.5:n.944+31_944+35del
NM_001035.2:c.14433+31_14433+35del	NP_001026.2:n.14433+31_14433+35del
XM_006711802.2:c.14487+31_14487+35del	XP_006711865.1:n.14487+31_14487+35del
XM_006711803.2:c.14484+31_14484+35del	XP_006711866.1:n.14484+31_14484+35del
XM_006711804.2:c.14463+31_14463+35del	XP_006711867.1:n.14463+31_14463+35del
XM_006711805.2:c.14457+31_14457+35del	XP_006711868.1:n.14457+31_14457+35del
XM_006711806.2:c.14451+31_14451+35del	XP_006711869.1:n.14451+31_14451+35del
XM_006711807.2:c.14427+31_14427+35del	XP_006711870.1:n.14427+31_14427+35del
XM_006711808.2:c.14250+31_14250+35del	XP_006711871.1:n.14250+31_14250+35del
XM_006711810.2:c.14394+31_14394+35del	XP_006711873.1:n.14394+31_14394+35del
XM_006711802.3:c.14487+31_14487+35del	XP_006711865.1:n.14487+31_14487+35del
XM_006711803.3:c.14484+31_14484+35del	XP_006711866.1:n.14484+31_14484+35del
XM_006711804.3:c.14463+31_14463+35del	XP_006711867.1:n.14463+31_14463+35del
XM_006711805.3:c.14457+31_14457+35del	XP_006711868.1:n.14457+31_14457+35del
XM_006711806.3:c.14451+31_14451+35del	XP_006711869.1:n.14451+31_14451+35del
XM_006711807.3:c.14427+31_14427+35del	XP_006711870.1:n.14427+31_14427+35del
XM_006711808.3:c.14250+31_14250+35del	XP_006711871.1:n.14250+31_14250+35del
XM_006711810.3:c.14394+31_14394+35del	XP_006711873.1:n.14394+31_14394+35del
XM_017002028.1:c.14466+31_14466+35del	XP_016857517.1:n.14466+31_14466+35del
NM_001035.3:c.14433+31_14433+35del MANE Select	NP_001026.2:n.14433+31_14433+35del