Canonical Allele Identifier: CA345413411

Gene: RYR2

Linked Data

• dbSNP Id: rs1202962809
• MyVariant Identifiers: chr1:g.237947484A>T (hg19) ; chr1:g.237784184A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784184A>T , CM000663.2:g.237784184A>T	GRCh38
NC_000001.10:g.237947484A>T , CM000663.1:g.237947484A>T	GRCh37
NC_000001.9:g.236014107A>T	NCBI36
NG_008799.2:g.746783A>T
NG_008799.3:g.747001A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3564A>T	ENSP00000499659.2:n.*3564A>T
ENST00000659194.3:c.12460A>T	ENSP00000499653.3:p.Thr4154Ser
ENST00000660292.2:c.12493A>T	ENSP00000499787.2:p.Thr4165Ser
ENST00000659194.2:c.4649A>T
ENST00000366574.7:c.12472A>T MANE Select	ENSP00000355533.2:p.Thr4158Ser
ENST00000659194.1:c.4649A>T
ENST00000660292.1:c.2525A>T
ENST00000360064.7:c.12424A>T	ENSP00000353174.7:p.Thr4142Ser
ENST00000366574.6:c.12472A>T	ENSP00000355533.2:p.Thr4158Ser
ENST00000609119.1:n.3667A>T
NM_001035.2:c.12472A>T	NP_001026.2:p.Thr4158Ser
XM_006711802.2:c.12526A>T	XP_006711865.1:p.Thr4176Ser
XM_006711803.2:c.12523A>T	XP_006711866.1:p.Thr4175Ser
XM_006711804.2:c.12502A>T	XP_006711867.1:p.Thr4168Ser
XM_006711805.2:c.12496A>T	XP_006711868.1:p.Thr4166Ser
XM_006711806.2:c.12490A>T	XP_006711869.1:p.Thr4164Ser
XM_006711807.2:c.12466A>T	XP_006711870.1:p.Thr4156Ser
XM_006711808.2:c.12289A>T	XP_006711871.1:p.Thr4097Ser
XM_006711810.2:c.12433A>T	XP_006711873.1:p.Thr4145Ser
XM_006711802.3:c.12526A>T	XP_006711865.1:p.Thr4176Ser
XM_006711803.3:c.12523A>T	XP_006711866.1:p.Thr4175Ser
XM_006711804.3:c.12502A>T	XP_006711867.1:p.Thr4168Ser
XM_006711805.3:c.12496A>T	XP_006711868.1:p.Thr4166Ser
XM_006711806.3:c.12490A>T	XP_006711869.1:p.Thr4164Ser
XM_006711807.3:c.12466A>T	XP_006711870.1:p.Thr4156Ser
XM_006711808.3:c.12289A>T	XP_006711871.1:p.Thr4097Ser
XM_006711810.3:c.12433A>T	XP_006711873.1:p.Thr4145Ser
XM_017002028.1:c.12505A>T	XP_016857517.1:p.Thr4169Ser
NM_001035.3:c.12472A>T MANE Select	NP_001026.2:p.Thr4158Ser