Canonical Allele Identifier: CA424032117

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947405C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784105C>T , CM000663.2:g.237784105C>T	GRCh38
NC_000001.10:g.237947405C>T , CM000663.1:g.237947405C>T	GRCh37
NC_000001.9:g.236014028C>T	NCBI36
NG_008799.2:g.746704C>T
NG_008799.3:g.746922C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3485C>T	ENSP00000499659.2:n.*3485C>T
ENST00000659194.3:c.12381C>T	ENSP00000499653.3:p.Pro4127=
ENST00000660292.2:c.12414C>T	ENSP00000499787.2:p.Pro4138=
ENST00000659194.2:c.4570C>T
ENST00000366574.7:c.12393C>T MANE Select	ENSP00000355533.2:p.Pro4131=
ENST00000659194.1:c.4570C>T
ENST00000660292.1:c.2446C>T
ENST00000360064.7:c.12345C>T	ENSP00000353174.7:p.Pro4115=
ENST00000366574.6:c.12393C>T	ENSP00000355533.2:p.Pro4131=
ENST00000609119.1:n.3588C>T
NM_001035.2:c.12393C>T	NP_001026.2:p.Pro4131=
XM_006711802.2:c.12447C>T	XP_006711865.1:p.Pro4149=
XM_006711803.2:c.12444C>T	XP_006711866.1:p.Pro4148=
XM_006711804.2:c.12423C>T	XP_006711867.1:p.Pro4141=
XM_006711805.2:c.12417C>T	XP_006711868.1:p.Pro4139=
XM_006711806.2:c.12411C>T	XP_006711869.1:p.Pro4137=
XM_006711807.2:c.12387C>T	XP_006711870.1:p.Pro4129=
XM_006711808.2:c.12210C>T	XP_006711871.1:p.Pro4070=
XM_006711810.2:c.12354C>T	XP_006711873.1:p.Pro4118=
XM_006711802.3:c.12447C>T	XP_006711865.1:p.Pro4149=
XM_006711803.3:c.12444C>T	XP_006711866.1:p.Pro4148=
XM_006711804.3:c.12423C>T	XP_006711867.1:p.Pro4141=
XM_006711805.3:c.12417C>T	XP_006711868.1:p.Pro4139=
XM_006711806.3:c.12411C>T	XP_006711869.1:p.Pro4137=
XM_006711807.3:c.12387C>T	XP_006711870.1:p.Pro4129=
XM_006711808.3:c.12210C>T	XP_006711871.1:p.Pro4070=
XM_006711810.3:c.12354C>T	XP_006711873.1:p.Pro4118=
XM_017002028.1:c.12426C>T	XP_016857517.1:p.Pro4142=
NM_001035.3:c.12393C>T MANE Select	NP_001026.2:p.Pro4131=