Canonical Allele Identifier: CA424032059

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947378A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784078A>T , CM000663.2:g.237784078A>T	GRCh38
NC_000001.10:g.237947378A>T , CM000663.1:g.237947378A>T	GRCh37
NC_000001.9:g.236014001A>T	NCBI36
NG_008799.2:g.746677A>T
NG_008799.3:g.746895A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3458A>T	ENSP00000499659.2:n.*3458A>T
ENST00000659194.3:c.12354A>T	ENSP00000499653.3:p.Ala4118=
ENST00000660292.2:c.12387A>T	ENSP00000499787.2:p.Ala4129=
ENST00000659194.2:c.4543A>T
ENST00000366574.7:c.12366A>T MANE Select	ENSP00000355533.2:p.Ala4122=
ENST00000659194.1:c.4543A>T
ENST00000660292.1:c.2419A>T
ENST00000360064.7:c.12318A>T	ENSP00000353174.7:p.Ala4106=
ENST00000366574.6:c.12366A>T	ENSP00000355533.2:p.Ala4122=
ENST00000609119.1:n.3561A>T
NM_001035.2:c.12366A>T	NP_001026.2:p.Ala4122=
XM_006711802.2:c.12420A>T	XP_006711865.1:p.Ala4140=
XM_006711803.2:c.12417A>T	XP_006711866.1:p.Ala4139=
XM_006711804.2:c.12396A>T	XP_006711867.1:p.Ala4132=
XM_006711805.2:c.12390A>T	XP_006711868.1:p.Ala4130=
XM_006711806.2:c.12384A>T	XP_006711869.1:p.Ala4128=
XM_006711807.2:c.12360A>T	XP_006711870.1:p.Ala4120=
XM_006711808.2:c.12183A>T	XP_006711871.1:p.Ala4061=
XM_006711810.2:c.12327A>T	XP_006711873.1:p.Ala4109=
XM_006711802.3:c.12420A>T	XP_006711865.1:p.Ala4140=
XM_006711803.3:c.12417A>T	XP_006711866.1:p.Ala4139=
XM_006711804.3:c.12396A>T	XP_006711867.1:p.Ala4132=
XM_006711805.3:c.12390A>T	XP_006711868.1:p.Ala4130=
XM_006711806.3:c.12384A>T	XP_006711869.1:p.Ala4128=
XM_006711807.3:c.12360A>T	XP_006711870.1:p.Ala4120=
XM_006711808.3:c.12183A>T	XP_006711871.1:p.Ala4061=
XM_006711810.3:c.12327A>T	XP_006711873.1:p.Ala4109=
XM_017002028.1:c.12399A>T	XP_016857517.1:p.Ala4133=
NM_001035.3:c.12366A>T MANE Select	NP_001026.2:p.Ala4122=