Canonical Allele Identifier: CA345413554

Gene: RYR2

Linked Data

• COSMIC: COSM6125042 ; COSM6125043
• MyVariant Identifiers: chr1:g.237947539T>C (hg19) ; chr1:g.237784239T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784239T>C , CM000663.2:g.237784239T>C	GRCh38
NC_000001.10:g.237947539T>C , CM000663.1:g.237947539T>C	GRCh37
NC_000001.9:g.236014162T>C	NCBI36
NG_008799.2:g.746838T>C
NG_008799.3:g.747056T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3619T>C	ENSP00000499659.2:n.*3619T>C
ENST00000659194.3:c.12515T>C	ENSP00000499653.3:p.Val4172Ala
ENST00000660292.2:c.12548T>C	ENSP00000499787.2:p.Val4183Ala
ENST00000659194.2:c.4704T>C
ENST00000366574.7:c.12527T>C MANE Select	ENSP00000355533.2:p.Val4176Ala
ENST00000659194.1:c.4704T>C
ENST00000660292.1:c.2580T>C
ENST00000360064.7:c.12479T>C	ENSP00000353174.7:p.Val4160Ala
ENST00000366574.6:c.12527T>C	ENSP00000355533.2:p.Val4176Ala
ENST00000609119.1:n.3722T>C
NM_001035.2:c.12527T>C	NP_001026.2:p.Val4176Ala
XM_006711802.2:c.12581T>C	XP_006711865.1:p.Val4194Ala
XM_006711803.2:c.12578T>C	XP_006711866.1:p.Val4193Ala
XM_006711804.2:c.12557T>C	XP_006711867.1:p.Val4186Ala
XM_006711805.2:c.12551T>C	XP_006711868.1:p.Val4184Ala
XM_006711806.2:c.12545T>C	XP_006711869.1:p.Val4182Ala
XM_006711807.2:c.12521T>C	XP_006711870.1:p.Val4174Ala
XM_006711808.2:c.12344T>C	XP_006711871.1:p.Val4115Ala
XM_006711810.2:c.12488T>C	XP_006711873.1:p.Val4163Ala
XM_006711802.3:c.12581T>C	XP_006711865.1:p.Val4194Ala
XM_006711803.3:c.12578T>C	XP_006711866.1:p.Val4193Ala
XM_006711804.3:c.12557T>C	XP_006711867.1:p.Val4186Ala
XM_006711805.3:c.12551T>C	XP_006711868.1:p.Val4184Ala
XM_006711806.3:c.12545T>C	XP_006711869.1:p.Val4182Ala
XM_006711807.3:c.12521T>C	XP_006711870.1:p.Val4174Ala
XM_006711808.3:c.12344T>C	XP_006711871.1:p.Val4115Ala
XM_006711810.3:c.12488T>C	XP_006711873.1:p.Val4163Ala
XM_017002028.1:c.12560T>C	XP_016857517.1:p.Val4187Ala
NM_001035.3:c.12527T>C MANE Select	NP_001026.2:p.Val4176Ala