Canonical Allele Identifier: CA2574488295

Gene: RYR2

Linked Data

• gnomAD v4: 1-237809048-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809048C>T , CM000663.2:g.237809048C>T	GRCh38
NC_000001.10:g.237972348C>T , CM000663.1:g.237972348C>T	GRCh37
NC_000001.9:g.236038971C>T	NCBI36
NG_008799.2:g.771647C>T
NG_008799.3:g.771865C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5525+13C>T	ENSP00000499659.2:n.*5525+13C>T
ENST00000659194.3:c.14415+13C>T	ENSP00000499653.3:n.14415+13C>T
ENST00000660292.2:c.14454+13C>T	ENSP00000499787.2:n.14454+13C>T
ENST00000659194.2:c.6604+13C>T
ENST00000366574.7:c.14433+13C>T MANE Select	ENSP00000355533.2:n.14433+13C>T
ENST00000360064.7:c.14382+13C>T	ENSP00000353174.7:n.14382+13C>T
ENST00000366574.6:c.14433+13C>T	ENSP00000355533.2:n.14433+13C>T
ENST00000608590.5:n.944+13C>T
NM_001035.2:c.14433+13C>T	NP_001026.2:n.14433+13C>T
XM_006711802.2:c.14487+13C>T	XP_006711865.1:n.14487+13C>T
XM_006711803.2:c.14484+13C>T	XP_006711866.1:n.14484+13C>T
XM_006711804.2:c.14463+13C>T	XP_006711867.1:n.14463+13C>T
XM_006711805.2:c.14457+13C>T	XP_006711868.1:n.14457+13C>T
XM_006711806.2:c.14451+13C>T	XP_006711869.1:n.14451+13C>T
XM_006711807.2:c.14427+13C>T	XP_006711870.1:n.14427+13C>T
XM_006711808.2:c.14250+13C>T	XP_006711871.1:n.14250+13C>T
XM_006711810.2:c.14394+13C>T	XP_006711873.1:n.14394+13C>T
XM_006711802.3:c.14487+13C>T	XP_006711865.1:n.14487+13C>T
XM_006711803.3:c.14484+13C>T	XP_006711866.1:n.14484+13C>T
XM_006711804.3:c.14463+13C>T	XP_006711867.1:n.14463+13C>T
XM_006711805.3:c.14457+13C>T	XP_006711868.1:n.14457+13C>T
XM_006711806.3:c.14451+13C>T	XP_006711869.1:n.14451+13C>T
XM_006711807.3:c.14427+13C>T	XP_006711870.1:n.14427+13C>T
XM_006711808.3:c.14250+13C>T	XP_006711871.1:n.14250+13C>T
XM_006711810.3:c.14394+13C>T	XP_006711873.1:n.14394+13C>T
XM_017002028.1:c.14466+13C>T	XP_016857517.1:n.14466+13C>T
NM_001035.3:c.14433+13C>T MANE Select	NP_001026.2:n.14433+13C>T