Canonical Allele Identifier: CA424051702

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972227T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808927T>A , CM000663.2:g.237808927T>A	GRCh38
NC_000001.10:g.237972227T>A , CM000663.1:g.237972227T>A	GRCh37
NC_000001.9:g.236038850T>A	NCBI36
NG_008799.2:g.771526T>A
NG_008799.3:g.771744T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*5417T>A	ENSP00000499659.2:n.*5417T>A
ENST00000659194.3:c.14307T>A	ENSP00000499653.3:p.Ala4769=
ENST00000660292.2:c.14346T>A	ENSP00000499787.2:p.Ala4782=
ENST00000659194.2:c.6496T>A
ENST00000366574.7:c.14325T>A MANE Select	ENSP00000355533.2:p.Ala4775=
ENST00000360064.7:c.14274T>A	ENSP00000353174.7:p.Ala4758=
ENST00000366574.6:c.14325T>A	ENSP00000355533.2:p.Ala4775=
ENST00000608590.5:n.836T>A
NM_001035.2:c.14325T>A	NP_001026.2:p.Ala4775=
XM_006711802.2:c.14379T>A	XP_006711865.1:p.Ala4793=
XM_006711803.2:c.14376T>A	XP_006711866.1:p.Ala4792=
XM_006711804.2:c.14355T>A	XP_006711867.1:p.Ala4785=
XM_006711805.2:c.14349T>A	XP_006711868.1:p.Ala4783=
XM_006711806.2:c.14343T>A	XP_006711869.1:p.Ala4781=
XM_006711807.2:c.14319T>A	XP_006711870.1:p.Ala4773=
XM_006711808.2:c.14142T>A	XP_006711871.1:p.Ala4714=
XM_006711810.2:c.14286T>A	XP_006711873.1:p.Ala4762=
XM_006711802.3:c.14379T>A	XP_006711865.1:p.Ala4793=
XM_006711803.3:c.14376T>A	XP_006711866.1:p.Ala4792=
XM_006711804.3:c.14355T>A	XP_006711867.1:p.Ala4785=
XM_006711805.3:c.14349T>A	XP_006711868.1:p.Ala4783=
XM_006711806.3:c.14343T>A	XP_006711869.1:p.Ala4781=
XM_006711807.3:c.14319T>A	XP_006711870.1:p.Ala4773=
XM_006711808.3:c.14142T>A	XP_006711871.1:p.Ala4714=
XM_006711810.3:c.14286T>A	XP_006711873.1:p.Ala4762=
XM_017002028.1:c.14358T>A	XP_016857517.1:p.Ala4786=
NM_001035.3:c.14325T>A MANE Select	NP_001026.2:p.Ala4775=