Canonical Allele Identifier: CA345408617

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237870377G>T (hg19) ; chr1:g.237707077G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237707077G>T , CM000663.2:g.237707077G>T	GRCh38
NC_000001.10:g.237870377G>T , CM000663.1:g.237870377G>T	GRCh37
NC_000001.9:g.235937000G>T	NCBI36
NG_008799.2:g.669676G>T
NG_008799.3:g.669894G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*744G>T	ENSP00000499659.2:n.*744G>T
ENST00000659194.3:c.9709G>T	ENSP00000499653.3:p.Val3237Phe
ENST00000660292.2:c.9709G>T	ENSP00000499787.2:p.Val3237Phe
ENST00000659194.2:c.1898G>T
ENST00000366574.7:c.9709G>T MANE Select	ENSP00000355533.2:p.Val3237Phe
ENST00000659194.1:c.1898G>T
ENST00000360064.7:c.9661G>T	ENSP00000353174.7:p.Val3221Phe
ENST00000366574.6:c.9709G>T	ENSP00000355533.2:p.Val3237Phe
ENST00000609119.1:n.847G>T
NM_001035.2:c.9709G>T	NP_001026.2:p.Val3237Phe
XM_006711802.2:c.9739G>T	XP_006711865.1:p.Val3247Phe
XM_006711803.2:c.9736G>T	XP_006711866.1:p.Val3246Phe
XM_006711804.2:c.9739G>T	XP_006711867.1:p.Val3247Phe
XM_006711805.2:c.9709G>T	XP_006711868.1:p.Val3237Phe
XM_006711806.2:c.9739G>T	XP_006711869.1:p.Val3247Phe
XM_006711807.2:c.9739G>T	XP_006711870.1:p.Val3247Phe
XM_006711808.2:c.9502G>T	XP_006711871.1:p.Val3168Phe
XM_006711810.2:c.9706G>T	XP_006711873.1:p.Val3236Phe
XM_006711802.3:c.9739G>T	XP_006711865.1:p.Val3247Phe
XM_006711803.3:c.9736G>T	XP_006711866.1:p.Val3246Phe
XM_006711804.3:c.9739G>T	XP_006711867.1:p.Val3247Phe
XM_006711805.3:c.9709G>T	XP_006711868.1:p.Val3237Phe
XM_006711806.3:c.9739G>T	XP_006711869.1:p.Val3247Phe
XM_006711807.3:c.9739G>T	XP_006711870.1:p.Val3247Phe
XM_006711808.3:c.9502G>T	XP_006711871.1:p.Val3168Phe
XM_006711810.3:c.9706G>T	XP_006711873.1:p.Val3236Phe
XM_017002028.1:c.9718G>T	XP_016857517.1:p.Val3240Phe
NM_001035.3:c.9709G>T MANE Select	NP_001026.2:p.Val3237Phe