Canonical Allele Identifier: CA345416322

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237787977T>A , CM000663.2:g.237787977T>A	GRCh38
NC_000001.10:g.237951277T>A , CM000663.1:g.237951277T>A	GRCh37
NC_000001.9:g.236017900T>A	NCBI36
NG_008799.2:g.750576T>A
NG_008799.3:g.750794T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13329-11T>A MANE Select	NP_001026.2:n.13329-11T>A
ENST00000366574.7:c.13329-11T>A MANE Select	ENSP00000355533.2:n.13329-11T>A
NM_001035.2:c.13329-11T>A	NP_001026.2:n.13329-11T>A
ENST00000360064.7:c.13267T>A	ENSP00000353174.7:p.Cys4423Ser
ENST00000366574.6:c.13329-11T>A	ENSP00000355533.2:n.13329-11T>A
ENST00000609119.2:c.*4421-11T>A	ENSP00000499659.2:n.*4421-11T>A
ENST00000659194.2:c.5500-11T>A
ENST00000659194.3:c.13311-11T>A	ENSP00000499653.3:n.13311-11T>A
ENST00000660292.1:c.3382-11T>A
ENST00000660292.2:c.13350-11T>A	ENSP00000499787.2:n.13350-11T>A
XM_006711802.2:c.13383-11T>A	XP_006711865.1:n.13383-11T>A
XM_006711802.3:c.13383-11T>A	XP_006711865.1:n.13383-11T>A
XM_006711803.2:c.13380-11T>A	XP_006711866.1:n.13380-11T>A
XM_006711803.3:c.13380-11T>A	XP_006711866.1:n.13380-11T>A
XM_006711804.2:c.13359-11T>A	XP_006711867.1:n.13359-11T>A
XM_006711804.3:c.13359-11T>A	XP_006711867.1:n.13359-11T>A
XM_006711805.2:c.13353-11T>A	XP_006711868.1:n.13353-11T>A
XM_006711805.3:c.13353-11T>A	XP_006711868.1:n.13353-11T>A
XM_006711806.2:c.13347-11T>A	XP_006711869.1:n.13347-11T>A
XM_006711806.3:c.13347-11T>A	XP_006711869.1:n.13347-11T>A
XM_006711807.2:c.13323-11T>A	XP_006711870.1:n.13323-11T>A
XM_006711807.3:c.13323-11T>A	XP_006711870.1:n.13323-11T>A
XM_006711808.2:c.13146-11T>A	XP_006711871.1:n.13146-11T>A
XM_006711808.3:c.13146-11T>A	XP_006711871.1:n.13146-11T>A
XM_006711810.2:c.13290-11T>A	XP_006711873.1:n.13290-11T>A
XM_006711810.3:c.13290-11T>A	XP_006711873.1:n.13290-11T>A
XM_017002028.1:c.13362-11T>A	XP_016857517.1:n.13362-11T>A