Canonical Allele Identifier: CA10610628

Gene: RYR2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237791434T>C , CM000663.2:g.237791434T>C	GRCh38
NC_000001.10:g.237954734T>C , CM000663.1:g.237954734T>C	GRCh37
NC_000001.9:g.236021357T>C	NCBI36
NG_008799.2:g.754033T>C
NG_008799.3:g.754251T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*4574T>C	ENSP00000499659.2:n.*4574T>C
ENST00000659194.3:c.13464T>C	ENSP00000499653.3:p.Tyr4488=
ENST00000660292.2:c.13503T>C	ENSP00000499787.2:p.Tyr4501=
ENST00000659194.2:c.5653T>C
ENST00000366574.7:c.13482T>C MANE Select	ENSP00000355533.2:p.Tyr4494=
ENST00000660292.1:c.3535T>C
ENST00000360064.7:c.13431T>C	ENSP00000353174.7:p.Tyr4477=
ENST00000366574.6:c.13482T>C	ENSP00000355533.2:p.Tyr4494=
NM_001035.2:c.13482T>C	NP_001026.2:p.Tyr4494=
XM_006711802.2:c.13536T>C	XP_006711865.1:p.Tyr4512=
XM_006711803.2:c.13533T>C	XP_006711866.1:p.Tyr4511=
XM_006711804.2:c.13512T>C	XP_006711867.1:p.Tyr4504=
XM_006711805.2:c.13506T>C	XP_006711868.1:p.Tyr4502=
XM_006711806.2:c.13500T>C	XP_006711869.1:p.Tyr4500=
XM_006711807.2:c.13476T>C	XP_006711870.1:p.Tyr4492=
XM_006711808.2:c.13299T>C	XP_006711871.1:p.Tyr4433=
XM_006711810.2:c.13443T>C	XP_006711873.1:p.Tyr4481=
XM_006711802.3:c.13536T>C	XP_006711865.1:p.Tyr4512=
XM_006711803.3:c.13533T>C	XP_006711866.1:p.Tyr4511=
XM_006711804.3:c.13512T>C	XP_006711867.1:p.Tyr4504=
XM_006711805.3:c.13506T>C	XP_006711868.1:p.Tyr4502=
XM_006711806.3:c.13500T>C	XP_006711869.1:p.Tyr4500=
XM_006711807.3:c.13476T>C	XP_006711870.1:p.Tyr4492=
XM_006711808.3:c.13299T>C	XP_006711871.1:p.Tyr4433=
XM_006711810.3:c.13443T>C	XP_006711873.1:p.Tyr4481=
XM_017002028.1:c.13515T>C	XP_016857517.1:p.Tyr4505=
NM_001035.3:c.13482T>C MANE Select	NP_001026.2:p.Tyr4494=