Canonical Allele Identifier: CA007852

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237785975A>C , CM000663.2:g.237785975A>C	GRCh38
NC_000001.10:g.237949275A>C , CM000663.1:g.237949275A>C	GRCh37
NC_000001.9:g.236015898A>C	NCBI36
NG_008799.2:g.748574A>C
NG_008799.3:g.748792A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*4359A>C	ENSP00000499659.2:n.*4359A>C
ENST00000659194.3:c.13249A>C	ENSP00000499653.3:p.Lys4417Gln
ENST00000660292.2:c.13288A>C	ENSP00000499787.2:p.Lys4430Gln
ENST00000659194.2:c.5438A>C
ENST00000366574.7:c.13267A>C MANE Select	ENSP00000355533.2:p.Lys4423Gln
ENST00000660292.1:c.3320A>C
ENST00000360064.7:c.13243+969A>C	ENSP00000353174.7:n.13243+969A>C
ENST00000366574.6:c.13267A>C	ENSP00000355533.2:p.Lys4423Gln
ENST00000609119.1:n.4462A>C
NM_001035.2:c.13267A>C	NP_001026.2:p.Lys4423Gln
XM_006711802.2:c.13321A>C	XP_006711865.1:p.Lys4441Gln
XM_006711803.2:c.13318A>C	XP_006711866.1:p.Lys4440Gln
XM_006711804.2:c.13297A>C	XP_006711867.1:p.Lys4433Gln
XM_006711805.2:c.13291A>C	XP_006711868.1:p.Lys4431Gln
XM_006711806.2:c.13285A>C	XP_006711869.1:p.Lys4429Gln
XM_006711807.2:c.13261A>C	XP_006711870.1:p.Lys4421Gln
XM_006711808.2:c.13084A>C	XP_006711871.1:p.Lys4362Gln
XM_006711810.2:c.13228A>C	XP_006711873.1:p.Lys4410Gln
XM_006711802.3:c.13321A>C	XP_006711865.1:p.Lys4441Gln
XM_006711803.3:c.13318A>C	XP_006711866.1:p.Lys4440Gln
XM_006711804.3:c.13297A>C	XP_006711867.1:p.Lys4433Gln
XM_006711805.3:c.13291A>C	XP_006711868.1:p.Lys4431Gln
XM_006711806.3:c.13285A>C	XP_006711869.1:p.Lys4429Gln
XM_006711807.3:c.13261A>C	XP_006711870.1:p.Lys4421Gln
XM_006711808.3:c.13084A>C	XP_006711871.1:p.Lys4362Gln
XM_006711810.3:c.13228A>C	XP_006711873.1:p.Lys4410Gln
XM_017002028.1:c.13300A>C	XP_016857517.1:p.Lys4434Gln
NM_001035.3:c.13267A>C MANE Select	NP_001026.2:p.Lys4423Gln