Canonical Allele Identifier: CA424051745

Gene: RYR2

Linked Data

• ClinVar Variation Id: 1772689
• ClinVar RCV Id: RCV002394345
• dbSNP Id: rs1660967364
• MyVariant Identifiers: chr1:g.237972302T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809002T>C , CM000663.2:g.237809002T>C	GRCh38
NC_000001.10:g.237972302T>C , CM000663.1:g.237972302T>C	GRCh37
NC_000001.9:g.236038925T>C	NCBI36
NG_008799.2:g.771601T>C
NG_008799.3:g.771819T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5492T>C	ENSP00000499659.2:n.*5492T>C
ENST00000659194.3:c.14382T>C	ENSP00000499653.3:p.Asp4794=
ENST00000660292.2:c.14421T>C	ENSP00000499787.2:p.Asp4807=
ENST00000659194.2:c.6571T>C
ENST00000366574.7:c.14400T>C MANE Select	ENSP00000355533.2:p.Asp4800=
ENST00000360064.7:c.14349T>C	ENSP00000353174.7:p.Asp4783=
ENST00000366574.6:c.14400T>C	ENSP00000355533.2:p.Asp4800=
ENST00000608590.5:n.911T>C
NM_001035.2:c.14400T>C	NP_001026.2:p.Asp4800=
XM_006711802.2:c.14454T>C	XP_006711865.1:p.Asp4818=
XM_006711803.2:c.14451T>C	XP_006711866.1:p.Asp4817=
XM_006711804.2:c.14430T>C	XP_006711867.1:p.Asp4810=
XM_006711805.2:c.14424T>C	XP_006711868.1:p.Asp4808=
XM_006711806.2:c.14418T>C	XP_006711869.1:p.Asp4806=
XM_006711807.2:c.14394T>C	XP_006711870.1:p.Asp4798=
XM_006711808.2:c.14217T>C	XP_006711871.1:p.Asp4739=
XM_006711810.2:c.14361T>C	XP_006711873.1:p.Asp4787=
XM_006711802.3:c.14454T>C	XP_006711865.1:p.Asp4818=
XM_006711803.3:c.14451T>C	XP_006711866.1:p.Asp4817=
XM_006711804.3:c.14430T>C	XP_006711867.1:p.Asp4810=
XM_006711805.3:c.14424T>C	XP_006711868.1:p.Asp4808=
XM_006711806.3:c.14418T>C	XP_006711869.1:p.Asp4806=
XM_006711807.3:c.14394T>C	XP_006711870.1:p.Asp4798=
XM_006711808.3:c.14217T>C	XP_006711871.1:p.Asp4739=
XM_006711810.3:c.14361T>C	XP_006711873.1:p.Asp4787=
XM_017002028.1:c.14433T>C	XP_016857517.1:p.Asp4811=
NM_001035.3:c.14400T>C MANE Select	NP_001026.2:p.Asp4800=