Canonical Allele Identifier: CA2487493380

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808932T= , CM000663.2:g.237808932T=	GRCh38
NC_000001.10:g.237972232T= , CM000663.1:g.237972232T=	GRCh37
NC_000001.9:g.236038855T=	NCBI36
NG_008799.2:g.771531T=
NG_008799.3:g.771749T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5422T=	ENSP00000499659.2:n.*5422T=
ENST00000659194.3:c.14312T=	ENSP00000499653.3:p.Val4771=
ENST00000660292.2:c.14351T=	ENSP00000499787.2:p.Val4784=
ENST00000659194.2:c.6501T=
ENST00000366574.7:c.14330T= MANE Select	ENSP00000355533.2:p.Val4777=
ENST00000360064.7:c.14279T=	ENSP00000353174.7:p.Val4760=
ENST00000366574.6:c.14330T=	ENSP00000355533.2:p.Val4777=
ENST00000608590.5:n.841T=
NM_001035.2:c.14330T=	NP_001026.2:p.Val4777=
XM_006711802.2:c.14384T=	XP_006711865.1:p.Val4795=
XM_006711803.2:c.14381T=	XP_006711866.1:p.Val4794=
XM_006711804.2:c.14360T=	XP_006711867.1:p.Val4787=
XM_006711805.2:c.14354T=	XP_006711868.1:p.Val4785=
XM_006711806.2:c.14348T=	XP_006711869.1:p.Val4783=
XM_006711807.2:c.14324T=	XP_006711870.1:p.Val4775=
XM_006711808.2:c.14147T=	XP_006711871.1:p.Val4716=
XM_006711810.2:c.14291T=	XP_006711873.1:p.Val4764=
XM_006711802.3:c.14384T=	XP_006711865.1:p.Val4795=
XM_006711803.3:c.14381T=	XP_006711866.1:p.Val4794=
XM_006711804.3:c.14360T=	XP_006711867.1:p.Val4787=
XM_006711805.3:c.14354T=	XP_006711868.1:p.Val4785=
XM_006711806.3:c.14348T=	XP_006711869.1:p.Val4783=
XM_006711807.3:c.14324T=	XP_006711870.1:p.Val4775=
XM_006711808.3:c.14147T=	XP_006711871.1:p.Val4716=
XM_006711810.3:c.14291T=	XP_006711873.1:p.Val4764=
XM_017002028.1:c.14363T=	XP_016857517.1:p.Val4788=
NM_001035.3:c.14330T= MANE Select	NP_001026.2:p.Val4777=