Canonical Allele Identifier: CA2487493485

Gene: RYR2

Linked Data

• dbSNP Id: rs1660997229

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809204A>C , CM000663.2:g.237809204A>C	GRCh38
NC_000001.10:g.237972504A>C , CM000663.1:g.237972504A>C	GRCh37
NC_000001.9:g.236039127A>C	NCBI36
NG_008799.2:g.771803A>C
NG_008799.3:g.772021A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5525+169A>C	ENSP00000499659.2:n.*5525+169A>C
ENST00000659194.3:c.14415+169A>C	ENSP00000499653.3:n.14415+169A>C
ENST00000660292.2:c.14454+169A>C	ENSP00000499787.2:n.14454+169A>C
ENST00000659194.2:c.6604+169A>C
ENST00000366574.7:c.14433+169A>C MANE Select	ENSP00000355533.2:n.14433+169A>C
ENST00000360064.7:c.14382+169A>C	ENSP00000353174.7:n.14382+169A>C
ENST00000366574.6:c.14433+169A>C	ENSP00000355533.2:n.14433+169A>C
ENST00000608590.5:n.944+169A>C
NM_001035.2:c.14433+169A>C	NP_001026.2:n.14433+169A>C
XM_006711802.2:c.14487+169A>C	XP_006711865.1:n.14487+169A>C
XM_006711803.2:c.14484+169A>C	XP_006711866.1:n.14484+169A>C
XM_006711804.2:c.14463+169A>C	XP_006711867.1:n.14463+169A>C
XM_006711805.2:c.14457+169A>C	XP_006711868.1:n.14457+169A>C
XM_006711806.2:c.14451+169A>C	XP_006711869.1:n.14451+169A>C
XM_006711807.2:c.14427+169A>C	XP_006711870.1:n.14427+169A>C
XM_006711808.2:c.14250+169A>C	XP_006711871.1:n.14250+169A>C
XM_006711810.2:c.14394+169A>C	XP_006711873.1:n.14394+169A>C
XM_006711802.3:c.14487+169A>C	XP_006711865.1:n.14487+169A>C
XM_006711803.3:c.14484+169A>C	XP_006711866.1:n.14484+169A>C
XM_006711804.3:c.14463+169A>C	XP_006711867.1:n.14463+169A>C
XM_006711805.3:c.14457+169A>C	XP_006711868.1:n.14457+169A>C
XM_006711806.3:c.14451+169A>C	XP_006711869.1:n.14451+169A>C
XM_006711807.3:c.14427+169A>C	XP_006711870.1:n.14427+169A>C
XM_006711808.3:c.14250+169A>C	XP_006711871.1:n.14250+169A>C
XM_006711810.3:c.14394+169A>C	XP_006711873.1:n.14394+169A>C
XM_017002028.1:c.14466+169A>C	XP_016857517.1:n.14466+169A>C
NM_001035.3:c.14433+169A>C MANE Select	NP_001026.2:n.14433+169A>C