Canonical Allele Identifier: CA424032231

Gene: RYR2

Linked Data

• gnomAD v4: 1-237784186-C-T
• MyVariant Identifiers: chr1:g.237947486C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784186C>T , CM000663.2:g.237784186C>T	GRCh38
NC_000001.10:g.237947486C>T , CM000663.1:g.237947486C>T	GRCh37
NC_000001.9:g.236014109C>T	NCBI36
NG_008799.2:g.746785C>T
NG_008799.3:g.747003C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3566C>T	ENSP00000499659.2:n.*3566C>T
ENST00000659194.3:c.12462C>T	ENSP00000499653.3:p.Thr4154=
ENST00000660292.2:c.12495C>T	ENSP00000499787.2:p.Thr4165=
ENST00000659194.2:c.4651C>T
ENST00000366574.7:c.12474C>T MANE Select	ENSP00000355533.2:p.Thr4158=
ENST00000659194.1:c.4651C>T
ENST00000660292.1:c.2527C>T
ENST00000360064.7:c.12426C>T	ENSP00000353174.7:p.Thr4142=
ENST00000366574.6:c.12474C>T	ENSP00000355533.2:p.Thr4158=
ENST00000609119.1:n.3669C>T
NM_001035.2:c.12474C>T	NP_001026.2:p.Thr4158=
XM_006711802.2:c.12528C>T	XP_006711865.1:p.Thr4176=
XM_006711803.2:c.12525C>T	XP_006711866.1:p.Thr4175=
XM_006711804.2:c.12504C>T	XP_006711867.1:p.Thr4168=
XM_006711805.2:c.12498C>T	XP_006711868.1:p.Thr4166=
XM_006711806.2:c.12492C>T	XP_006711869.1:p.Thr4164=
XM_006711807.2:c.12468C>T	XP_006711870.1:p.Thr4156=
XM_006711808.2:c.12291C>T	XP_006711871.1:p.Thr4097=
XM_006711810.2:c.12435C>T	XP_006711873.1:p.Thr4145=
XM_006711802.3:c.12528C>T	XP_006711865.1:p.Thr4176=
XM_006711803.3:c.12525C>T	XP_006711866.1:p.Thr4175=
XM_006711804.3:c.12504C>T	XP_006711867.1:p.Thr4168=
XM_006711805.3:c.12498C>T	XP_006711868.1:p.Thr4166=
XM_006711806.3:c.12492C>T	XP_006711869.1:p.Thr4164=
XM_006711807.3:c.12468C>T	XP_006711870.1:p.Thr4156=
XM_006711808.3:c.12291C>T	XP_006711871.1:p.Thr4097=
XM_006711810.3:c.12435C>T	XP_006711873.1:p.Thr4145=
XM_017002028.1:c.12507C>T	XP_016857517.1:p.Thr4169=
NM_001035.3:c.12474C>T MANE Select	NP_001026.2:p.Thr4158=