Canonical Allele Identifier: CA424051700

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972222T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808922T>C , CM000663.2:g.237808922T>C	GRCh38
NC_000001.10:g.237972222T>C , CM000663.1:g.237972222T>C	GRCh37
NC_000001.9:g.236038845T>C	NCBI36
NG_008799.2:g.771521T>C
NG_008799.3:g.771739T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5412T>C	ENSP00000499659.2:n.*5412T>C
ENST00000659194.3:c.14302T>C	ENSP00000499653.3:p.Leu4768=
ENST00000660292.2:c.14341T>C	ENSP00000499787.2:p.Leu4781=
ENST00000659194.2:c.6491T>C
ENST00000366574.7:c.14320T>C MANE Select	ENSP00000355533.2:p.Leu4774=
ENST00000360064.7:c.14269T>C	ENSP00000353174.7:p.Leu4757=
ENST00000366574.6:c.14320T>C	ENSP00000355533.2:p.Leu4774=
ENST00000608590.5:n.831T>C
NM_001035.2:c.14320T>C	NP_001026.2:p.Leu4774=
XM_006711802.2:c.14374T>C	XP_006711865.1:p.Leu4792=
XM_006711803.2:c.14371T>C	XP_006711866.1:p.Leu4791=
XM_006711804.2:c.14350T>C	XP_006711867.1:p.Leu4784=
XM_006711805.2:c.14344T>C	XP_006711868.1:p.Leu4782=
XM_006711806.2:c.14338T>C	XP_006711869.1:p.Leu4780=
XM_006711807.2:c.14314T>C	XP_006711870.1:p.Leu4772=
XM_006711808.2:c.14137T>C	XP_006711871.1:p.Leu4713=
XM_006711810.2:c.14281T>C	XP_006711873.1:p.Leu4761=
XM_006711802.3:c.14374T>C	XP_006711865.1:p.Leu4792=
XM_006711803.3:c.14371T>C	XP_006711866.1:p.Leu4791=
XM_006711804.3:c.14350T>C	XP_006711867.1:p.Leu4784=
XM_006711805.3:c.14344T>C	XP_006711868.1:p.Leu4782=
XM_006711806.3:c.14338T>C	XP_006711869.1:p.Leu4780=
XM_006711807.3:c.14314T>C	XP_006711870.1:p.Leu4772=
XM_006711808.3:c.14137T>C	XP_006711871.1:p.Leu4713=
XM_006711810.3:c.14281T>C	XP_006711873.1:p.Leu4761=
XM_017002028.1:c.14353T>C	XP_016857517.1:p.Leu4785=
NM_001035.3:c.14320T>C MANE Select	NP_001026.2:p.Leu4774=