Canonical Allele Identifier: CA10586347

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237707056C>A , CM000663.2:g.237707056C>A	GRCh38
NC_000001.10:g.237870356C>A , CM000663.1:g.237870356C>A	GRCh37
NC_000001.9:g.235936979C>A	NCBI36
NG_008799.2:g.669655C>A
NG_008799.3:g.669873C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*723C>A	ENSP00000499659.2:n.*723C>A
ENST00000659194.3:c.9688C>A	ENSP00000499653.3:p.Gln3230Lys
ENST00000660292.2:c.9688C>A	ENSP00000499787.2:p.Gln3230Lys
ENST00000659194.2:c.1877C>A
ENST00000366574.7:c.9688C>A MANE Select	ENSP00000355533.2:p.Gln3230Lys
ENST00000659194.1:c.1877C>A
ENST00000360064.7:c.9640C>A	ENSP00000353174.7:p.Gln3214Lys
ENST00000366574.6:c.9688C>A	ENSP00000355533.2:p.Gln3230Lys
ENST00000609119.1:n.826C>A
NM_001035.2:c.9688C>A	NP_001026.2:p.Gln3230Lys
XM_006711802.2:c.9718C>A	XP_006711865.1:p.Gln3240Lys
XM_006711803.2:c.9715C>A	XP_006711866.1:p.Gln3239Lys
XM_006711804.2:c.9718C>A	XP_006711867.1:p.Gln3240Lys
XM_006711805.2:c.9688C>A	XP_006711868.1:p.Gln3230Lys
XM_006711806.2:c.9718C>A	XP_006711869.1:p.Gln3240Lys
XM_006711807.2:c.9718C>A	XP_006711870.1:p.Gln3240Lys
XM_006711808.2:c.9481C>A	XP_006711871.1:p.Gln3161Lys
XM_006711810.2:c.9685C>A	XP_006711873.1:p.Gln3229Lys
XM_006711802.3:c.9718C>A	XP_006711865.1:p.Gln3240Lys
XM_006711803.3:c.9715C>A	XP_006711866.1:p.Gln3239Lys
XM_006711804.3:c.9718C>A	XP_006711867.1:p.Gln3240Lys
XM_006711805.3:c.9688C>A	XP_006711868.1:p.Gln3230Lys
XM_006711806.3:c.9718C>A	XP_006711869.1:p.Gln3240Lys
XM_006711807.3:c.9718C>A	XP_006711870.1:p.Gln3240Lys
XM_006711808.3:c.9481C>A	XP_006711871.1:p.Gln3161Lys
XM_006711810.3:c.9685C>A	XP_006711873.1:p.Gln3229Lys
XM_017002028.1:c.9697C>A	XP_016857517.1:p.Gln3233Lys
NM_001035.3:c.9688C>A MANE Select	NP_001026.2:p.Gln3230Lys