Canonical Allele Identifier: CA10581135

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237792304T>C , CM000663.2:g.237792304T>C	GRCh38
NC_000001.10:g.237955604T>C , CM000663.1:g.237955604T>C	GRCh37
NC_000001.9:g.236022227T>C	NCBI36
NG_008799.2:g.754903T>C
NG_008799.3:g.755121T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*4855T>C	ENSP00000499659.2:n.*4855T>C
ENST00000659194.3:c.13745T>C	ENSP00000499653.3:p.Ile4582Thr
ENST00000660292.2:c.13784T>C	ENSP00000499787.2:p.Ile4595Thr
ENST00000659194.2:c.5934T>C
ENST00000366574.7:c.13763T>C MANE Select	ENSP00000355533.2:p.Ile4588Thr
ENST00000660292.1:c.3816T>C
ENST00000360064.7:c.13712T>C	ENSP00000353174.7:p.Ile4571Thr
ENST00000366574.6:c.13763T>C	ENSP00000355533.2:p.Ile4588Thr
ENST00000608590.5:n.274T>C
NM_001035.2:c.13763T>C	NP_001026.2:p.Ile4588Thr
XM_006711802.2:c.13817T>C	XP_006711865.1:p.Ile4606Thr
XM_006711803.2:c.13814T>C	XP_006711866.1:p.Ile4605Thr
XM_006711804.2:c.13793T>C	XP_006711867.1:p.Ile4598Thr
XM_006711805.2:c.13787T>C	XP_006711868.1:p.Ile4596Thr
XM_006711806.2:c.13781T>C	XP_006711869.1:p.Ile4594Thr
XM_006711807.2:c.13757T>C	XP_006711870.1:p.Ile4586Thr
XM_006711808.2:c.13580T>C	XP_006711871.1:p.Ile4527Thr
XM_006711810.2:c.13724T>C	XP_006711873.1:p.Ile4575Thr
XM_006711802.3:c.13817T>C	XP_006711865.1:p.Ile4606Thr
XM_006711803.3:c.13814T>C	XP_006711866.1:p.Ile4605Thr
XM_006711804.3:c.13793T>C	XP_006711867.1:p.Ile4598Thr
XM_006711805.3:c.13787T>C	XP_006711868.1:p.Ile4596Thr
XM_006711806.3:c.13781T>C	XP_006711869.1:p.Ile4594Thr
XM_006711807.3:c.13757T>C	XP_006711870.1:p.Ile4586Thr
XM_006711808.3:c.13580T>C	XP_006711871.1:p.Ile4527Thr
XM_006711810.3:c.13724T>C	XP_006711873.1:p.Ile4575Thr
XM_017002028.1:c.13796T>C	XP_016857517.1:p.Ile4599Thr
NM_001035.3:c.13763T>C MANE Select	NP_001026.2:p.Ile4588Thr