Canonical Allele Identifier: CA2487493376

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808913G= , CM000663.2:g.237808913G=	GRCh38
NC_000001.10:g.237972213G= , CM000663.1:g.237972213G=	GRCh37
NC_000001.9:g.236038836G=	NCBI36
NG_008799.2:g.771512G=
NG_008799.3:g.771730G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14311G= MANE Select	NP_001026.2:p.Val4771=
ENST00000366574.7:c.14311G= MANE Select	ENSP00000355533.2:p.Val4771=
NM_001035.2:c.14311G=	NP_001026.2:p.Val4771=
ENST00000360064.7:c.14260G=	ENSP00000353174.7:p.Val4754=
ENST00000366574.6:c.14311G=	ENSP00000355533.2:p.Val4771=
ENST00000608590.5:n.822G=
ENST00000609119.2:c.*5403G=	ENSP00000499659.2:n.*5403G=
ENST00000659194.2:c.6482G=
ENST00000659194.3:c.14293G=	ENSP00000499653.3:p.Val4765=
ENST00000660292.2:c.14332G=	ENSP00000499787.2:p.Val4778=
XM_006711802.2:c.14365G=	XP_006711865.1:p.Val4789=
XM_006711802.3:c.14365G=	XP_006711865.1:p.Val4789=
XM_006711803.2:c.14362G=	XP_006711866.1:p.Val4788=
XM_006711803.3:c.14362G=	XP_006711866.1:p.Val4788=
XM_006711804.2:c.14341G=	XP_006711867.1:p.Val4781=
XM_006711804.3:c.14341G=	XP_006711867.1:p.Val4781=
XM_006711805.2:c.14335G=	XP_006711868.1:p.Val4779=
XM_006711805.3:c.14335G=	XP_006711868.1:p.Val4779=
XM_006711806.2:c.14329G=	XP_006711869.1:p.Val4777=
XM_006711806.3:c.14329G=	XP_006711869.1:p.Val4777=
XM_006711807.2:c.14305G=	XP_006711870.1:p.Val4769=
XM_006711807.3:c.14305G=	XP_006711870.1:p.Val4769=
XM_006711808.2:c.14128G=	XP_006711871.1:p.Val4710=
XM_006711808.3:c.14128G=	XP_006711871.1:p.Val4710=
XM_006711810.2:c.14272G=	XP_006711873.1:p.Val4758=
XM_006711810.3:c.14272G=	XP_006711873.1:p.Val4758=
XM_017002028.1:c.14344G=	XP_016857517.1:p.Val4782=