Canonical Allele Identifier: CA345424358

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972282A>T (hg19) ; chr1:g.237808982A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808982A>T , CM000663.2:g.237808982A>T	GRCh38
NC_000001.10:g.237972282A>T , CM000663.1:g.237972282A>T	GRCh37
NC_000001.9:g.236038905A>T	NCBI36
NG_008799.2:g.771581A>T
NG_008799.3:g.771799A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5472A>T	ENSP00000499659.2:n.*5472A>T
ENST00000659194.3:c.14362A>T	ENSP00000499653.3:p.Asn4788Tyr
ENST00000660292.2:c.14401A>T	ENSP00000499787.2:p.Asn4801Tyr
ENST00000659194.2:c.6551A>T
ENST00000366574.7:c.14380A>T MANE Select	ENSP00000355533.2:p.Asn4794Tyr
ENST00000360064.7:c.14329A>T	ENSP00000353174.7:p.Asn4777Tyr
ENST00000366574.6:c.14380A>T	ENSP00000355533.2:p.Asn4794Tyr
ENST00000608590.5:n.891A>T
NM_001035.2:c.14380A>T	NP_001026.2:p.Asn4794Tyr
XM_006711802.2:c.14434A>T	XP_006711865.1:p.Asn4812Tyr
XM_006711803.2:c.14431A>T	XP_006711866.1:p.Asn4811Tyr
XM_006711804.2:c.14410A>T	XP_006711867.1:p.Asn4804Tyr
XM_006711805.2:c.14404A>T	XP_006711868.1:p.Asn4802Tyr
XM_006711806.2:c.14398A>T	XP_006711869.1:p.Asn4800Tyr
XM_006711807.2:c.14374A>T	XP_006711870.1:p.Asn4792Tyr
XM_006711808.2:c.14197A>T	XP_006711871.1:p.Asn4733Tyr
XM_006711810.2:c.14341A>T	XP_006711873.1:p.Asn4781Tyr
XM_006711802.3:c.14434A>T	XP_006711865.1:p.Asn4812Tyr
XM_006711803.3:c.14431A>T	XP_006711866.1:p.Asn4811Tyr
XM_006711804.3:c.14410A>T	XP_006711867.1:p.Asn4804Tyr
XM_006711805.3:c.14404A>T	XP_006711868.1:p.Asn4802Tyr
XM_006711806.3:c.14398A>T	XP_006711869.1:p.Asn4800Tyr
XM_006711807.3:c.14374A>T	XP_006711870.1:p.Asn4792Tyr
XM_006711808.3:c.14197A>T	XP_006711871.1:p.Asn4733Tyr
XM_006711810.3:c.14341A>T	XP_006711873.1:p.Asn4781Tyr
XM_017002028.1:c.14413A>T	XP_016857517.1:p.Asn4805Tyr
NM_001035.3:c.14380A>T MANE Select	NP_001026.2:p.Asn4794Tyr