Canonical Allele Identifier: CA345413719

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947611T>C (hg19) ; chr1:g.237784311T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784311T>C , CM000663.2:g.237784311T>C	GRCh38
NC_000001.10:g.237947611T>C , CM000663.1:g.237947611T>C	GRCh37
NC_000001.9:g.236014234T>C	NCBI36
NG_008799.2:g.746910T>C
NG_008799.3:g.747128T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3691T>C	ENSP00000499659.2:n.*3691T>C
ENST00000659194.3:c.12587T>C	ENSP00000499653.3:p.Met4196Thr
ENST00000660292.2:c.12620T>C	ENSP00000499787.2:p.Met4207Thr
ENST00000659194.2:c.4776T>C
ENST00000366574.7:c.12599T>C MANE Select	ENSP00000355533.2:p.Met4200Thr
ENST00000659194.1:c.4776T>C
ENST00000660292.1:c.2652T>C
ENST00000360064.7:c.12551T>C	ENSP00000353174.7:p.Met4184Thr
ENST00000366574.6:c.12599T>C	ENSP00000355533.2:p.Met4200Thr
ENST00000609119.1:n.3794T>C
NM_001035.2:c.12599T>C	NP_001026.2:p.Met4200Thr
XM_006711802.2:c.12653T>C	XP_006711865.1:p.Met4218Thr
XM_006711803.2:c.12650T>C	XP_006711866.1:p.Met4217Thr
XM_006711804.2:c.12629T>C	XP_006711867.1:p.Met4210Thr
XM_006711805.2:c.12623T>C	XP_006711868.1:p.Met4208Thr
XM_006711806.2:c.12617T>C	XP_006711869.1:p.Met4206Thr
XM_006711807.2:c.12593T>C	XP_006711870.1:p.Met4198Thr
XM_006711808.2:c.12416T>C	XP_006711871.1:p.Met4139Thr
XM_006711810.2:c.12560T>C	XP_006711873.1:p.Met4187Thr
XM_006711802.3:c.12653T>C	XP_006711865.1:p.Met4218Thr
XM_006711803.3:c.12650T>C	XP_006711866.1:p.Met4217Thr
XM_006711804.3:c.12629T>C	XP_006711867.1:p.Met4210Thr
XM_006711805.3:c.12623T>C	XP_006711868.1:p.Met4208Thr
XM_006711806.3:c.12617T>C	XP_006711869.1:p.Met4206Thr
XM_006711807.3:c.12593T>C	XP_006711870.1:p.Met4198Thr
XM_006711808.3:c.12416T>C	XP_006711871.1:p.Met4139Thr
XM_006711810.3:c.12560T>C	XP_006711873.1:p.Met4187Thr
XM_017002028.1:c.12632T>C	XP_016857517.1:p.Met4211Thr
NM_001035.3:c.12599T>C MANE Select	NP_001026.2:p.Met4200Thr