Canonical Allele Identifier: CA007454

Gene: RYR2

Linked Data

• ClinVar Variation Id: 201329
• ClinVar RCV Id: RCV000182815 ; RCV001332695
• dbSNP Id: rs794728785
• COSMIC: COSM4462030 ; COSM4462031
• MyVariant Identifiers: chr1:g.237947313C>T (hg19) ; chr1:g.237784013C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784013C>T , CM000663.2:g.237784013C>T	GRCh38
NC_000001.10:g.237947313C>T , CM000663.1:g.237947313C>T	GRCh37
NC_000001.9:g.236013936C>T	NCBI36
NG_008799.2:g.746612C>T
NG_008799.3:g.746830C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3393C>T	ENSP00000499659.2:n.*3393C>T
ENST00000659194.3:c.12289C>T	ENSP00000499653.3:p.Leu4097Phe
ENST00000660292.2:c.12322C>T	ENSP00000499787.2:p.Leu4108Phe
ENST00000659194.2:c.4478C>T
ENST00000366574.7:c.12301C>T MANE Select	ENSP00000355533.2:p.Leu4101Phe
ENST00000659194.1:c.4478C>T
ENST00000660292.1:c.2354C>T
ENST00000360064.7:c.12253C>T	ENSP00000353174.7:p.Leu4085Phe
ENST00000366574.6:c.12301C>T	ENSP00000355533.2:p.Leu4101Phe
ENST00000609119.1:n.3496C>T
NM_001035.2:c.12301C>T	NP_001026.2:p.Leu4101Phe
XM_006711802.2:c.12355C>T	XP_006711865.1:p.Leu4119Phe
XM_006711803.2:c.12352C>T	XP_006711866.1:p.Leu4118Phe
XM_006711804.2:c.12331C>T	XP_006711867.1:p.Leu4111Phe
XM_006711805.2:c.12325C>T	XP_006711868.1:p.Leu4109Phe
XM_006711806.2:c.12319C>T	XP_006711869.1:p.Leu4107Phe
XM_006711807.2:c.12295C>T	XP_006711870.1:p.Leu4099Phe
XM_006711808.2:c.12118C>T	XP_006711871.1:p.Leu4040Phe
XM_006711810.2:c.12262C>T	XP_006711873.1:p.Leu4088Phe
XM_006711802.3:c.12355C>T	XP_006711865.1:p.Leu4119Phe
XM_006711803.3:c.12352C>T	XP_006711866.1:p.Leu4118Phe
XM_006711804.3:c.12331C>T	XP_006711867.1:p.Leu4111Phe
XM_006711805.3:c.12325C>T	XP_006711868.1:p.Leu4109Phe
XM_006711806.3:c.12319C>T	XP_006711869.1:p.Leu4107Phe
XM_006711807.3:c.12295C>T	XP_006711870.1:p.Leu4099Phe
XM_006711808.3:c.12118C>T	XP_006711871.1:p.Leu4040Phe
XM_006711810.3:c.12262C>T	XP_006711873.1:p.Leu4088Phe
XM_017002028.1:c.12334C>T	XP_016857517.1:p.Leu4112Phe
NM_001035.3:c.12301C>T MANE Select	NP_001026.2:p.Leu4101Phe