Canonical Allele Identifier: CA345413647

Gene: RYR2

Linked Data

• ClinVar Variation Id: 664195
• ClinVar RCV Id: RCV002535945
• dbSNP Id: rs1064794753
• MyVariant Identifiers: chr1:g.237947581T>A (hg19) ; chr1:g.237784281T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784281T>A , CM000663.2:g.237784281T>A	GRCh38
NC_000001.10:g.237947581T>A , CM000663.1:g.237947581T>A	GRCh37
NC_000001.9:g.236014204T>A	NCBI36
NG_008799.2:g.746880T>A
NG_008799.3:g.747098T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3661T>A	ENSP00000499659.2:n.*3661T>A
ENST00000659194.3:c.12557T>A	ENSP00000499653.3:p.Val4186Glu
ENST00000660292.2:c.12590T>A	ENSP00000499787.2:p.Val4197Glu
ENST00000659194.2:c.4746T>A
ENST00000366574.7:c.12569T>A MANE Select	ENSP00000355533.2:p.Val4190Glu
ENST00000659194.1:c.4746T>A
ENST00000660292.1:c.2622T>A
ENST00000360064.7:c.12521T>A	ENSP00000353174.7:p.Val4174Glu
ENST00000366574.6:c.12569T>A	ENSP00000355533.2:p.Val4190Glu
ENST00000609119.1:n.3764T>A
NM_001035.2:c.12569T>A	NP_001026.2:p.Val4190Glu
XM_006711802.2:c.12623T>A	XP_006711865.1:p.Val4208Glu
XM_006711803.2:c.12620T>A	XP_006711866.1:p.Val4207Glu
XM_006711804.2:c.12599T>A	XP_006711867.1:p.Val4200Glu
XM_006711805.2:c.12593T>A	XP_006711868.1:p.Val4198Glu
XM_006711806.2:c.12587T>A	XP_006711869.1:p.Val4196Glu
XM_006711807.2:c.12563T>A	XP_006711870.1:p.Val4188Glu
XM_006711808.2:c.12386T>A	XP_006711871.1:p.Val4129Glu
XM_006711810.2:c.12530T>A	XP_006711873.1:p.Val4177Glu
XM_006711802.3:c.12623T>A	XP_006711865.1:p.Val4208Glu
XM_006711803.3:c.12620T>A	XP_006711866.1:p.Val4207Glu
XM_006711804.3:c.12599T>A	XP_006711867.1:p.Val4200Glu
XM_006711805.3:c.12593T>A	XP_006711868.1:p.Val4198Glu
XM_006711806.3:c.12587T>A	XP_006711869.1:p.Val4196Glu
XM_006711807.3:c.12563T>A	XP_006711870.1:p.Val4188Glu
XM_006711808.3:c.12386T>A	XP_006711871.1:p.Val4129Glu
XM_006711810.3:c.12530T>A	XP_006711873.1:p.Val4177Glu
XM_017002028.1:c.12602T>A	XP_016857517.1:p.Val4201Glu
NM_001035.3:c.12569T>A MANE Select	NP_001026.2:p.Val4190Glu