Canonical Allele Identifier: CA345424244

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972259T>A (hg19) ; chr1:g.237808959T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808959T>A , CM000663.2:g.237808959T>A	GRCh38
NC_000001.10:g.237972259T>A , CM000663.1:g.237972259T>A	GRCh37
NC_000001.9:g.236038882T>A	NCBI36
NG_008799.2:g.771558T>A
NG_008799.3:g.771776T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5449T>A	ENSP00000499659.2:n.*5449T>A
ENST00000659194.3:c.14339T>A	ENSP00000499653.3:p.Phe4780Tyr
ENST00000660292.2:c.14378T>A	ENSP00000499787.2:p.Phe4793Tyr
ENST00000659194.2:c.6528T>A
ENST00000366574.7:c.14357T>A MANE Select	ENSP00000355533.2:p.Phe4786Tyr
ENST00000360064.7:c.14306T>A	ENSP00000353174.7:p.Phe4769Tyr
ENST00000366574.6:c.14357T>A	ENSP00000355533.2:p.Phe4786Tyr
ENST00000608590.5:n.868T>A
NM_001035.2:c.14357T>A	NP_001026.2:p.Phe4786Tyr
XM_006711802.2:c.14411T>A	XP_006711865.1:p.Phe4804Tyr
XM_006711803.2:c.14408T>A	XP_006711866.1:p.Phe4803Tyr
XM_006711804.2:c.14387T>A	XP_006711867.1:p.Phe4796Tyr
XM_006711805.2:c.14381T>A	XP_006711868.1:p.Phe4794Tyr
XM_006711806.2:c.14375T>A	XP_006711869.1:p.Phe4792Tyr
XM_006711807.2:c.14351T>A	XP_006711870.1:p.Phe4784Tyr
XM_006711808.2:c.14174T>A	XP_006711871.1:p.Phe4725Tyr
XM_006711810.2:c.14318T>A	XP_006711873.1:p.Phe4773Tyr
XM_006711802.3:c.14411T>A	XP_006711865.1:p.Phe4804Tyr
XM_006711803.3:c.14408T>A	XP_006711866.1:p.Phe4803Tyr
XM_006711804.3:c.14387T>A	XP_006711867.1:p.Phe4796Tyr
XM_006711805.3:c.14381T>A	XP_006711868.1:p.Phe4794Tyr
XM_006711806.3:c.14375T>A	XP_006711869.1:p.Phe4792Tyr
XM_006711807.3:c.14351T>A	XP_006711870.1:p.Phe4784Tyr
XM_006711808.3:c.14174T>A	XP_006711871.1:p.Phe4725Tyr
XM_006711810.3:c.14318T>A	XP_006711873.1:p.Phe4773Tyr
XM_017002028.1:c.14390T>A	XP_016857517.1:p.Phe4797Tyr
NM_001035.3:c.14357T>A MANE Select	NP_001026.2:p.Phe4786Tyr