Canonical Allele Identifier: CA2651216739

Gene: RYR2

Linked Data

• gnomAD v4: 1-237809037-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809038_237809039dup , CM000663.2:g.237809038_237809039dup	GRCh38
NC_000001.10:g.237972338_237972339dup , CM000663.1:g.237972338_237972339dup	GRCh37
NC_000001.9:g.236038961_236038962dup	NCBI36
NG_008799.2:g.771637_771638dup
NG_008799.3:g.771855_771856dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5525+3_*5525+4dup	ENSP00000499659.2:n.*5525+3_*5525+4dup
ENST00000659194.3:c.14415+3_14415+4dup	ENSP00000499653.3:n.14415+3_14415+4dup
ENST00000660292.2:c.14454+3_14454+4dup	ENSP00000499787.2:n.14454+3_14454+4dup
ENST00000659194.2:c.6604+3_6604+4dup
ENST00000366574.7:c.14433+3_14433+4dup MANE Select	ENSP00000355533.2:n.14433+3_14433+4dup
ENST00000360064.7:c.14382+3_14382+4dup	ENSP00000353174.7:n.14382+3_14382+4dup
ENST00000366574.6:c.14433+3_14433+4dup	ENSP00000355533.2:n.14433+3_14433+4dup
ENST00000608590.5:n.944+3_944+4dup
NM_001035.2:c.14433+3_14433+4dup	NP_001026.2:n.14433+3_14433+4dup
XM_006711802.2:c.14487+3_14487+4dup	XP_006711865.1:n.14487+3_14487+4dup
XM_006711803.2:c.14484+3_14484+4dup	XP_006711866.1:n.14484+3_14484+4dup
XM_006711804.2:c.14463+3_14463+4dup	XP_006711867.1:n.14463+3_14463+4dup
XM_006711805.2:c.14457+3_14457+4dup	XP_006711868.1:n.14457+3_14457+4dup
XM_006711806.2:c.14451+3_14451+4dup	XP_006711869.1:n.14451+3_14451+4dup
XM_006711807.2:c.14427+3_14427+4dup	XP_006711870.1:n.14427+3_14427+4dup
XM_006711808.2:c.14250+3_14250+4dup	XP_006711871.1:n.14250+3_14250+4dup
XM_006711810.2:c.14394+3_14394+4dup	XP_006711873.1:n.14394+3_14394+4dup
XM_006711802.3:c.14487+3_14487+4dup	XP_006711865.1:n.14487+3_14487+4dup
XM_006711803.3:c.14484+3_14484+4dup	XP_006711866.1:n.14484+3_14484+4dup
XM_006711804.3:c.14463+3_14463+4dup	XP_006711867.1:n.14463+3_14463+4dup
XM_006711805.3:c.14457+3_14457+4dup	XP_006711868.1:n.14457+3_14457+4dup
XM_006711806.3:c.14451+3_14451+4dup	XP_006711869.1:n.14451+3_14451+4dup
XM_006711807.3:c.14427+3_14427+4dup	XP_006711870.1:n.14427+3_14427+4dup
XM_006711808.3:c.14250+3_14250+4dup	XP_006711871.1:n.14250+3_14250+4dup
XM_006711810.3:c.14394+3_14394+4dup	XP_006711873.1:n.14394+3_14394+4dup
XM_017002028.1:c.14466+3_14466+4dup	XP_016857517.1:n.14466+3_14466+4dup
NM_001035.3:c.14433+3_14433+4dup MANE Select	NP_001026.2:n.14433+3_14433+4dup