Canonical Allele Identifier: CA345413532

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947530T>C (hg19) ; chr1:g.237784230T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784230T>C , CM000663.2:g.237784230T>C	GRCh38
NC_000001.10:g.237947530T>C , CM000663.1:g.237947530T>C	GRCh37
NC_000001.9:g.236014153T>C	NCBI36
NG_008799.2:g.746829T>C
NG_008799.3:g.747047T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3610T>C	ENSP00000499659.2:n.*3610T>C
ENST00000659194.3:c.12506T>C	ENSP00000499653.3:p.Ile4169Thr
ENST00000660292.2:c.12539T>C	ENSP00000499787.2:p.Ile4180Thr
ENST00000659194.2:c.4695T>C
ENST00000366574.7:c.12518T>C MANE Select	ENSP00000355533.2:p.Ile4173Thr
ENST00000659194.1:c.4695T>C
ENST00000660292.1:c.2571T>C
ENST00000360064.7:c.12470T>C	ENSP00000353174.7:p.Ile4157Thr
ENST00000366574.6:c.12518T>C	ENSP00000355533.2:p.Ile4173Thr
ENST00000609119.1:n.3713T>C
NM_001035.2:c.12518T>C	NP_001026.2:p.Ile4173Thr
XM_006711802.2:c.12572T>C	XP_006711865.1:p.Ile4191Thr
XM_006711803.2:c.12569T>C	XP_006711866.1:p.Ile4190Thr
XM_006711804.2:c.12548T>C	XP_006711867.1:p.Ile4183Thr
XM_006711805.2:c.12542T>C	XP_006711868.1:p.Ile4181Thr
XM_006711806.2:c.12536T>C	XP_006711869.1:p.Ile4179Thr
XM_006711807.2:c.12512T>C	XP_006711870.1:p.Ile4171Thr
XM_006711808.2:c.12335T>C	XP_006711871.1:p.Ile4112Thr
XM_006711810.2:c.12479T>C	XP_006711873.1:p.Ile4160Thr
XM_006711802.3:c.12572T>C	XP_006711865.1:p.Ile4191Thr
XM_006711803.3:c.12569T>C	XP_006711866.1:p.Ile4190Thr
XM_006711804.3:c.12548T>C	XP_006711867.1:p.Ile4183Thr
XM_006711805.3:c.12542T>C	XP_006711868.1:p.Ile4181Thr
XM_006711806.3:c.12536T>C	XP_006711869.1:p.Ile4179Thr
XM_006711807.3:c.12512T>C	XP_006711870.1:p.Ile4171Thr
XM_006711808.3:c.12335T>C	XP_006711871.1:p.Ile4112Thr
XM_006711810.3:c.12479T>C	XP_006711873.1:p.Ile4160Thr
XM_017002028.1:c.12551T>C	XP_016857517.1:p.Ile4184Thr
NM_001035.3:c.12518T>C MANE Select	NP_001026.2:p.Ile4173Thr