Canonical Allele Identifier: CA424032044

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947624T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784324T>A , CM000663.2:g.237784324T>A	GRCh38
NC_000001.10:g.237947624T>A , CM000663.1:g.237947624T>A	GRCh37
NC_000001.9:g.236014247T>A	NCBI36
NG_008799.2:g.746923T>A
NG_008799.3:g.747141T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3704T>A	ENSP00000499659.2:n.*3704T>A
ENST00000659194.3:c.12600T>A	ENSP00000499653.3:p.Ala4200=
ENST00000660292.2:c.12633T>A	ENSP00000499787.2:p.Ala4211=
ENST00000659194.2:c.4789T>A
ENST00000366574.7:c.12612T>A MANE Select	ENSP00000355533.2:p.Ala4204=
ENST00000659194.1:c.4789T>A
ENST00000660292.1:c.2665T>A
ENST00000360064.7:c.12564T>A	ENSP00000353174.7:p.Ala4188=
ENST00000366574.6:c.12612T>A	ENSP00000355533.2:p.Ala4204=
ENST00000609119.1:n.3807T>A
NM_001035.2:c.12612T>A	NP_001026.2:p.Ala4204=
XM_006711802.2:c.12666T>A	XP_006711865.1:p.Ala4222=
XM_006711803.2:c.12663T>A	XP_006711866.1:p.Ala4221=
XM_006711804.2:c.12642T>A	XP_006711867.1:p.Ala4214=
XM_006711805.2:c.12636T>A	XP_006711868.1:p.Ala4212=
XM_006711806.2:c.12630T>A	XP_006711869.1:p.Ala4210=
XM_006711807.2:c.12606T>A	XP_006711870.1:p.Ala4202=
XM_006711808.2:c.12429T>A	XP_006711871.1:p.Ala4143=
XM_006711810.2:c.12573T>A	XP_006711873.1:p.Ala4191=
XM_006711802.3:c.12666T>A	XP_006711865.1:p.Ala4222=
XM_006711803.3:c.12663T>A	XP_006711866.1:p.Ala4221=
XM_006711804.3:c.12642T>A	XP_006711867.1:p.Ala4214=
XM_006711805.3:c.12636T>A	XP_006711868.1:p.Ala4212=
XM_006711806.3:c.12630T>A	XP_006711869.1:p.Ala4210=
XM_006711807.3:c.12606T>A	XP_006711870.1:p.Ala4202=
XM_006711808.3:c.12429T>A	XP_006711871.1:p.Ala4143=
XM_006711810.3:c.12573T>A	XP_006711873.1:p.Ala4191=
XM_017002028.1:c.12645T>A	XP_016857517.1:p.Ala4215=
NM_001035.3:c.12612T>A MANE Select	NP_001026.2:p.Ala4204=