Canonical Allele Identifier: CA087949

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237707104A>G , CM000663.2:g.237707104A>G	GRCh38
NC_000001.10:g.237870404A>G , CM000663.1:g.237870404A>G	GRCh37
NC_000001.9:g.235937027A>G	NCBI36
NG_008799.2:g.669703A>G
NG_008799.3:g.669921A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*771A>G	ENSP00000499659.2:n.*771A>G
ENST00000659194.3:c.9736A>G	ENSP00000499653.3:p.Met3246Val
ENST00000660292.2:c.9736A>G	ENSP00000499787.2:p.Met3246Val
ENST00000659194.2:c.1925A>G
ENST00000366574.7:c.9736A>G MANE Select	ENSP00000355533.2:p.Met3246Val
ENST00000659194.1:c.1925A>G
ENST00000360064.7:c.9688A>G	ENSP00000353174.7:p.Met3230Val
ENST00000366574.6:c.9736A>G	ENSP00000355533.2:p.Met3246Val
ENST00000609119.1:n.874A>G
NM_001035.2:c.9736A>G	NP_001026.2:p.Met3246Val
XM_006711802.2:c.9766A>G	XP_006711865.1:p.Met3256Val
XM_006711803.2:c.9763A>G	XP_006711866.1:p.Met3255Val
XM_006711804.2:c.9766A>G	XP_006711867.1:p.Met3256Val
XM_006711805.2:c.9736A>G	XP_006711868.1:p.Met3246Val
XM_006711806.2:c.9766A>G	XP_006711869.1:p.Met3256Val
XM_006711807.2:c.9766A>G	XP_006711870.1:p.Met3256Val
XM_006711808.2:c.9529A>G	XP_006711871.1:p.Met3177Val
XM_006711810.2:c.9733A>G	XP_006711873.1:p.Met3245Val
XM_006711802.3:c.9766A>G	XP_006711865.1:p.Met3256Val
XM_006711803.3:c.9763A>G	XP_006711866.1:p.Met3255Val
XM_006711804.3:c.9766A>G	XP_006711867.1:p.Met3256Val
XM_006711805.3:c.9736A>G	XP_006711868.1:p.Met3246Val
XM_006711806.3:c.9766A>G	XP_006711869.1:p.Met3256Val
XM_006711807.3:c.9766A>G	XP_006711870.1:p.Met3256Val
XM_006711808.3:c.9529A>G	XP_006711871.1:p.Met3177Val
XM_006711810.3:c.9733A>G	XP_006711873.1:p.Met3245Val
XM_017002028.1:c.9745A>G	XP_016857517.1:p.Met3249Val
NM_001035.3:c.9736A>G MANE Select	NP_001026.2:p.Met3246Val