Canonical Allele Identifier: CA424032294

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947540G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784240G>T , CM000663.2:g.237784240G>T	GRCh38
NC_000001.10:g.237947540G>T , CM000663.1:g.237947540G>T	GRCh37
NC_000001.9:g.236014163G>T	NCBI36
NG_008799.2:g.746839G>T
NG_008799.3:g.747057G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3620G>T	ENSP00000499659.2:n.*3620G>T
ENST00000659194.3:c.12516G>T	ENSP00000499653.3:p.Val4172=
ENST00000660292.2:c.12549G>T	ENSP00000499787.2:p.Val4183=
ENST00000659194.2:c.4705G>T
ENST00000366574.7:c.12528G>T MANE Select	ENSP00000355533.2:p.Val4176=
ENST00000659194.1:c.4705G>T
ENST00000660292.1:c.2581G>T
ENST00000360064.7:c.12480G>T	ENSP00000353174.7:p.Val4160=
ENST00000366574.6:c.12528G>T	ENSP00000355533.2:p.Val4176=
ENST00000609119.1:n.3723G>T
NM_001035.2:c.12528G>T	NP_001026.2:p.Val4176=
XM_006711802.2:c.12582G>T	XP_006711865.1:p.Val4194=
XM_006711803.2:c.12579G>T	XP_006711866.1:p.Val4193=
XM_006711804.2:c.12558G>T	XP_006711867.1:p.Val4186=
XM_006711805.2:c.12552G>T	XP_006711868.1:p.Val4184=
XM_006711806.2:c.12546G>T	XP_006711869.1:p.Val4182=
XM_006711807.2:c.12522G>T	XP_006711870.1:p.Val4174=
XM_006711808.2:c.12345G>T	XP_006711871.1:p.Val4115=
XM_006711810.2:c.12489G>T	XP_006711873.1:p.Val4163=
XM_006711802.3:c.12582G>T	XP_006711865.1:p.Val4194=
XM_006711803.3:c.12579G>T	XP_006711866.1:p.Val4193=
XM_006711804.3:c.12558G>T	XP_006711867.1:p.Val4186=
XM_006711805.3:c.12552G>T	XP_006711868.1:p.Val4184=
XM_006711806.3:c.12546G>T	XP_006711869.1:p.Val4182=
XM_006711807.3:c.12522G>T	XP_006711870.1:p.Val4174=
XM_006711808.3:c.12345G>T	XP_006711871.1:p.Val4115=
XM_006711810.3:c.12489G>T	XP_006711873.1:p.Val4163=
XM_017002028.1:c.12561G>T	XP_016857517.1:p.Val4187=
NM_001035.3:c.12528G>T MANE Select	NP_001026.2:p.Val4176=