Canonical Allele Identifier: CA345409204

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237942007G>T (hg19) ; chr1:g.237778707G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237778707G>T , CM000663.2:g.237778707G>T	GRCh38
NC_000001.10:g.237942007G>T , CM000663.1:g.237942007G>T	GRCh37
NC_000001.9:g.236008630G>T	NCBI36
NG_008799.2:g.741306G>T
NG_008799.3:g.741524G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*2909G>T	ENSP00000499659.2:n.*2909G>T
ENST00000659194.3:c.11805G>T	ENSP00000499653.3:p.Arg3935Ser
ENST00000660292.2:c.11838G>T	ENSP00000499787.2:p.Arg3946Ser
ENST00000659194.2:c.3994G>T
ENST00000366574.7:c.11817G>T MANE Select	ENSP00000355533.2:p.Arg3939Ser
ENST00000659194.1:c.3994G>T
ENST00000660292.1:c.1870G>T
ENST00000360064.7:c.11769G>T	ENSP00000353174.7:p.Arg3923Ser
ENST00000366574.6:c.11817G>T	ENSP00000355533.2:p.Arg3939Ser
ENST00000609119.1:n.3012G>T
NM_001035.2:c.11817G>T	NP_001026.2:p.Arg3939Ser
XM_006711802.2:c.11871G>T	XP_006711865.1:p.Arg3957Ser
XM_006711803.2:c.11868G>T	XP_006711866.1:p.Arg3956Ser
XM_006711804.2:c.11847G>T	XP_006711867.1:p.Arg3949Ser
XM_006711805.2:c.11841G>T	XP_006711868.1:p.Arg3947Ser
XM_006711806.2:c.11835G>T	XP_006711869.1:p.Arg3945Ser
XM_006711807.2:c.11811G>T	XP_006711870.1:p.Arg3937Ser
XM_006711808.2:c.11634G>T	XP_006711871.1:p.Arg3878Ser
XM_006711810.2:c.11778G>T	XP_006711873.1:p.Arg3926Ser
XM_006711802.3:c.11871G>T	XP_006711865.1:p.Arg3957Ser
XM_006711803.3:c.11868G>T	XP_006711866.1:p.Arg3956Ser
XM_006711804.3:c.11847G>T	XP_006711867.1:p.Arg3949Ser
XM_006711805.3:c.11841G>T	XP_006711868.1:p.Arg3947Ser
XM_006711806.3:c.11835G>T	XP_006711869.1:p.Arg3945Ser
XM_006711807.3:c.11811G>T	XP_006711870.1:p.Arg3937Ser
XM_006711808.3:c.11634G>T	XP_006711871.1:p.Arg3878Ser
XM_006711810.3:c.11778G>T	XP_006711873.1:p.Arg3926Ser
XM_017002028.1:c.11850G>T	XP_016857517.1:p.Arg3950Ser
NM_001035.3:c.11817G>T MANE Select	NP_001026.2:p.Arg3939Ser