Canonical Allele Identifier: CA345409747

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237830584G>A , CM000663.2:g.237830584G>A	GRCh38
NC_000001.10:g.237993884G>A , CM000663.1:g.237993884G>A	GRCh37
NC_000001.9:g.236060507G>A	NCBI36
NG_008799.2:g.793183G>A
NG_008799.3:g.793401G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14710G>A MANE Select	NP_001026.2:p.Gly4904Ser
ENST00000366574.7:c.14710G>A MANE Select	ENSP00000355533.2:p.Gly4904Ser
NM_001035.2:c.14710G>A	NP_001026.2:p.Gly4904Ser
ENST00000360064.7:c.14659G>A	ENSP00000353174.7:p.Gly4887Ser
ENST00000366574.6:c.14710G>A	ENSP00000355533.2:p.Gly4904Ser
ENST00000462585.1:n.553G>A
ENST00000608590.5:n.1167-930G>A
ENST00000609119.2:c.*5802G>A	ENSP00000499659.2:n.*5802G>A
ENST00000659194.2:c.6881G>A
ENST00000659194.3:c.14692G>A	ENSP00000499653.3:p.Gly4898Ser
ENST00000660292.2:c.14731G>A	ENSP00000499787.2:p.Gly4911Ser
XM_006711802.2:c.14764G>A	XP_006711865.1:p.Gly4922Ser
XM_006711802.3:c.14764G>A	XP_006711865.1:p.Gly4922Ser
XM_006711803.2:c.14761G>A	XP_006711866.1:p.Gly4921Ser
XM_006711803.3:c.14761G>A	XP_006711866.1:p.Gly4921Ser
XM_006711804.2:c.14740G>A	XP_006711867.1:p.Gly4914Ser
XM_006711804.3:c.14740G>A	XP_006711867.1:p.Gly4914Ser
XM_006711805.2:c.14734G>A	XP_006711868.1:p.Gly4912Ser
XM_006711805.3:c.14734G>A	XP_006711868.1:p.Gly4912Ser
XM_006711806.2:c.14728G>A	XP_006711869.1:p.Gly4910Ser
XM_006711806.3:c.14728G>A	XP_006711869.1:p.Gly4910Ser
XM_006711807.2:c.14704G>A	XP_006711870.1:p.Gly4902Ser
XM_006711807.3:c.14704G>A	XP_006711870.1:p.Gly4902Ser
XM_006711808.2:c.14527G>A	XP_006711871.1:p.Gly4843Ser
XM_006711808.3:c.14527G>A	XP_006711871.1:p.Gly4843Ser
XM_006711810.2:c.14671G>A	XP_006711873.1:p.Gly4891Ser
XM_006711810.3:c.14671G>A	XP_006711873.1:p.Gly4891Ser
XM_017002028.1:c.14743G>A	XP_016857517.1:p.Gly4915Ser