Canonical Allele Identifier: CA424032323

Gene: RYR2

Linked Data

• dbSNP Id: rs2149354295
• MyVariant Identifiers: chr1:g.237947579T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784279T>C , CM000663.2:g.237784279T>C	GRCh38
NC_000001.10:g.237947579T>C , CM000663.1:g.237947579T>C	GRCh37
NC_000001.9:g.236014202T>C	NCBI36
NG_008799.2:g.746878T>C
NG_008799.3:g.747096T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3659T>C	ENSP00000499659.2:n.*3659T>C
ENST00000659194.3:c.12555T>C	ENSP00000499653.3:p.Phe4185=
ENST00000660292.2:c.12588T>C	ENSP00000499787.2:p.Phe4196=
ENST00000659194.2:c.4744T>C
ENST00000366574.7:c.12567T>C MANE Select	ENSP00000355533.2:p.Phe4189=
ENST00000659194.1:c.4744T>C
ENST00000660292.1:c.2620T>C
ENST00000360064.7:c.12519T>C	ENSP00000353174.7:p.Phe4173=
ENST00000366574.6:c.12567T>C	ENSP00000355533.2:p.Phe4189=
ENST00000609119.1:n.3762T>C
NM_001035.2:c.12567T>C	NP_001026.2:p.Phe4189=
XM_006711802.2:c.12621T>C	XP_006711865.1:p.Phe4207=
XM_006711803.2:c.12618T>C	XP_006711866.1:p.Phe4206=
XM_006711804.2:c.12597T>C	XP_006711867.1:p.Phe4199=
XM_006711805.2:c.12591T>C	XP_006711868.1:p.Phe4197=
XM_006711806.2:c.12585T>C	XP_006711869.1:p.Phe4195=
XM_006711807.2:c.12561T>C	XP_006711870.1:p.Phe4187=
XM_006711808.2:c.12384T>C	XP_006711871.1:p.Phe4128=
XM_006711810.2:c.12528T>C	XP_006711873.1:p.Phe4176=
XM_006711802.3:c.12621T>C	XP_006711865.1:p.Phe4207=
XM_006711803.3:c.12618T>C	XP_006711866.1:p.Phe4206=
XM_006711804.3:c.12597T>C	XP_006711867.1:p.Phe4199=
XM_006711805.3:c.12591T>C	XP_006711868.1:p.Phe4197=
XM_006711806.3:c.12585T>C	XP_006711869.1:p.Phe4195=
XM_006711807.3:c.12561T>C	XP_006711870.1:p.Phe4187=
XM_006711808.3:c.12384T>C	XP_006711871.1:p.Phe4128=
XM_006711810.3:c.12528T>C	XP_006711873.1:p.Phe4176=
XM_017002028.1:c.12600T>C	XP_016857517.1:p.Phe4200=
NM_001035.3:c.12567T>C MANE Select	NP_001026.2:p.Phe4189=