Canonical Allele Identifier: CA007740

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.237784629T>C , CM000663.2:g.237784629T>C	GRCh38
NC_000001.10:g.237947929T>C , CM000663.1:g.237947929T>C	GRCh37
NC_000001.9:g.236014552T>C	NCBI36
NG_008799.2:g.747228T>C
NG_008799.3:g.747446T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*4009T>C	ENSP00000499659.2:n.*4009T>C
ENST00000659194.3:c.12905T>C	ENSP00000499653.3:p.Phe4302Ser
ENST00000660292.2:c.12938T>C	ENSP00000499787.2:p.Phe4313Ser
ENST00000659194.2:c.5094T>C
ENST00000366574.7:c.12917T>C MANE Select	ENSP00000355533.2:p.Phe4306Ser
ENST00000659194.1:c.5094T>C
ENST00000660292.1:c.2970T>C
ENST00000360064.7:c.12869T>C	ENSP00000353174.7:p.Phe4290Ser
ENST00000366574.6:c.12917T>C	ENSP00000355533.2:p.Phe4306Ser
ENST00000609119.1:n.4112T>C
NM_001035.2:c.12917T>C	NP_001026.2:p.Phe4306Ser
XM_006711802.2:c.12971T>C	XP_006711865.1:p.Phe4324Ser
XM_006711803.2:c.12968T>C	XP_006711866.1:p.Phe4323Ser
XM_006711804.2:c.12947T>C	XP_006711867.1:p.Phe4316Ser
XM_006711805.2:c.12941T>C	XP_006711868.1:p.Phe4314Ser
XM_006711806.2:c.12935T>C	XP_006711869.1:p.Phe4312Ser
XM_006711807.2:c.12911T>C	XP_006711870.1:p.Phe4304Ser
XM_006711808.2:c.12734T>C	XP_006711871.1:p.Phe4245Ser
XM_006711810.2:c.12878T>C	XP_006711873.1:p.Phe4293Ser
XM_006711802.3:c.12971T>C	XP_006711865.1:p.Phe4324Ser
XM_006711803.3:c.12968T>C	XP_006711866.1:p.Phe4323Ser
XM_006711804.3:c.12947T>C	XP_006711867.1:p.Phe4316Ser
XM_006711805.3:c.12941T>C	XP_006711868.1:p.Phe4314Ser
XM_006711806.3:c.12935T>C	XP_006711869.1:p.Phe4312Ser
XM_006711807.3:c.12911T>C	XP_006711870.1:p.Phe4304Ser
XM_006711808.3:c.12734T>C	XP_006711871.1:p.Phe4245Ser
XM_006711810.3:c.12878T>C	XP_006711873.1:p.Phe4293Ser
XM_017002028.1:c.12950T>C	XP_016857517.1:p.Phe4317Ser
NM_001035.3:c.12917T>C MANE Select	NP_001026.2:p.Phe4306Ser