Canonical Allele Identifier: CA345403644

Gene: RYR2

Linked Data

• ClinVar Variation Id: 3074816
• ClinVar RCV Id: RCV004014350
• dbSNP Id: rs1685555534
• gnomAD v4: 1-237678081-C-T
• MyVariant Identifiers: chr1:g.237841381C>T (hg19) ; chr1:g.237678081C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237678081C>T , CM000663.2:g.237678081C>T	GRCh38
NC_000001.10:g.237841381C>T , CM000663.1:g.237841381C>T	GRCh37
NC_000001.9:g.235908004C>T	NCBI36
NG_008799.2:g.640680C>T
NG_008799.3:g.640898C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.8831-2375C>T	ENSP00000499659.2:n.8831-2375C>T
ENST00000659194.3:c.8864C>T	ENSP00000499653.3:p.Pro2955Leu
ENST00000660292.2:c.8864C>T	ENSP00000499787.2:p.Pro2955Leu
ENST00000659194.2:c.1053C>T
ENST00000366574.7:c.8864C>T MANE Select	ENSP00000355533.2:p.Pro2955Leu
ENST00000659194.1:c.1053C>T
ENST00000360064.7:c.8816C>T	ENSP00000353174.7:p.Pro2939Leu
ENST00000366574.6:c.8864C>T	ENSP00000355533.2:p.Pro2955Leu
ENST00000609119.1:n.84-2375C>T
NM_001035.2:c.8864C>T	NP_001026.2:p.Pro2955Leu
XM_006711802.2:c.8894C>T	XP_006711865.1:p.Pro2965Leu
XM_006711803.2:c.8891C>T	XP_006711866.1:p.Pro2964Leu
XM_006711804.2:c.8894C>T	XP_006711867.1:p.Pro2965Leu
XM_006711805.2:c.8864C>T	XP_006711868.1:p.Pro2955Leu
XM_006711806.2:c.8894C>T	XP_006711869.1:p.Pro2965Leu
XM_006711807.2:c.8894C>T	XP_006711870.1:p.Pro2965Leu
XM_006711808.2:c.8860+3235C>T	XP_006711871.1:n.8860+3235C>T
XM_006711810.2:c.8861C>T	XP_006711873.1:p.Pro2954Leu
XR_949152.1:n.9175C>T
XM_006711802.3:c.8894C>T	XP_006711865.1:p.Pro2965Leu
XM_006711803.3:c.8891C>T	XP_006711866.1:p.Pro2964Leu
XM_006711804.3:c.8894C>T	XP_006711867.1:p.Pro2965Leu
XM_006711805.3:c.8864C>T	XP_006711868.1:p.Pro2955Leu
XM_006711806.3:c.8894C>T	XP_006711869.1:p.Pro2965Leu
XM_006711807.3:c.8894C>T	XP_006711870.1:p.Pro2965Leu
XM_006711808.3:c.8860+3235C>T	XP_006711871.1:n.8860+3235C>T
XM_006711810.3:c.8861C>T	XP_006711873.1:p.Pro2954Leu
XM_017002028.1:c.8873C>T	XP_016857517.1:p.Pro2958Leu
XR_949152.2:n.9208C>T
NM_001035.3:c.8864C>T MANE Select	NP_001026.2:p.Pro2955Leu