Canonical Allele Identifier: CA345426847

Gene: RYR2

Linked Data

• ClinVar Variation Id: 566084
• ClinVar RCV Id: RCV002532206
• dbSNP Id: rs1558481148
• MyVariant Identifiers: chr1:g.237982488A>G (hg19) ; chr1:g.237819188A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237819188A>G , CM000663.2:g.237819188A>G	GRCh38
NC_000001.10:g.237982488A>G , CM000663.1:g.237982488A>G	GRCh37
NC_000001.9:g.236049111A>G	NCBI36
NG_008799.2:g.781787A>G
NG_008799.3:g.782005A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*5678A>G	ENSP00000499659.2:n.*5678A>G
ENST00000659194.3:c.14568A>G	ENSP00000499653.3:p.Ile4856Met
ENST00000660292.2:c.14607A>G	ENSP00000499787.2:p.Ile4869Met
ENST00000659194.2:c.6757A>G
ENST00000366574.7:c.14586A>G MANE Select	ENSP00000355533.2:p.Ile4862Met
ENST00000360064.7:c.14535A>G	ENSP00000353174.7:p.Ile4845Met
ENST00000366574.6:c.14586A>G	ENSP00000355533.2:p.Ile4862Met
ENST00000608590.5:n.1097A>G
NM_001035.2:c.14586A>G	NP_001026.2:p.Ile4862Met
XM_006711802.2:c.14640A>G	XP_006711865.1:p.Ile4880Met
XM_006711803.2:c.14637A>G	XP_006711866.1:p.Ile4879Met
XM_006711804.2:c.14616A>G	XP_006711867.1:p.Ile4872Met
XM_006711805.2:c.14610A>G	XP_006711868.1:p.Ile4870Met
XM_006711806.2:c.14604A>G	XP_006711869.1:p.Ile4868Met
XM_006711807.2:c.14580A>G	XP_006711870.1:p.Ile4860Met
XM_006711808.2:c.14403A>G	XP_006711871.1:p.Ile4801Met
XM_006711810.2:c.14547A>G	XP_006711873.1:p.Ile4849Met
XM_006711802.3:c.14640A>G	XP_006711865.1:p.Ile4880Met
XM_006711803.3:c.14637A>G	XP_006711866.1:p.Ile4879Met
XM_006711804.3:c.14616A>G	XP_006711867.1:p.Ile4872Met
XM_006711805.3:c.14610A>G	XP_006711868.1:p.Ile4870Met
XM_006711806.3:c.14604A>G	XP_006711869.1:p.Ile4868Met
XM_006711807.3:c.14580A>G	XP_006711870.1:p.Ile4860Met
XM_006711808.3:c.14403A>G	XP_006711871.1:p.Ile4801Met
XM_006711810.3:c.14547A>G	XP_006711873.1:p.Ile4849Met
XM_017002028.1:c.14619A>G	XP_016857517.1:p.Ile4873Met
NM_001035.3:c.14586A>G MANE Select	NP_001026.2:p.Ile4862Met