Canonical Allele Identifier: CA008301

Gene: RYR2

Linked Data

• ClinVar Variation Id: 180505
• ClinVar RCV Id: RCV000157468
• dbSNP Id: rs730880199
• MyVariant Identifiers: chr1:g.237982467T>G (hg19) ; chr1:g.237819167T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237819167T>G , CM000663.2:g.237819167T>G	GRCh38
NC_000001.10:g.237982467T>G , CM000663.1:g.237982467T>G	GRCh37
NC_000001.9:g.236049090T>G	NCBI36
NG_008799.2:g.781766T>G
NG_008799.3:g.781984T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*5657T>G	ENSP00000499659.2:n.*5657T>G
ENST00000659194.3:c.14547T>G	ENSP00000499653.3:p.Ile4849Met
ENST00000660292.2:c.14586T>G	ENSP00000499787.2:p.Ile4862Met
ENST00000659194.2:c.6736T>G
ENST00000366574.7:c.14565T>G MANE Select	ENSP00000355533.2:p.Ile4855Met
ENST00000360064.7:c.14514T>G	ENSP00000353174.7:p.Ile4838Met
ENST00000366574.6:c.14565T>G	ENSP00000355533.2:p.Ile4855Met
ENST00000608590.5:n.1076T>G
NM_001035.2:c.14565T>G	NP_001026.2:p.Ile4855Met
XM_006711802.2:c.14619T>G	XP_006711865.1:p.Ile4873Met
XM_006711803.2:c.14616T>G	XP_006711866.1:p.Ile4872Met
XM_006711804.2:c.14595T>G	XP_006711867.1:p.Ile4865Met
XM_006711805.2:c.14589T>G	XP_006711868.1:p.Ile4863Met
XM_006711806.2:c.14583T>G	XP_006711869.1:p.Ile4861Met
XM_006711807.2:c.14559T>G	XP_006711870.1:p.Ile4853Met
XM_006711808.2:c.14382T>G	XP_006711871.1:p.Ile4794Met
XM_006711810.2:c.14526T>G	XP_006711873.1:p.Ile4842Met
XM_006711802.3:c.14619T>G	XP_006711865.1:p.Ile4873Met
XM_006711803.3:c.14616T>G	XP_006711866.1:p.Ile4872Met
XM_006711804.3:c.14595T>G	XP_006711867.1:p.Ile4865Met
XM_006711805.3:c.14589T>G	XP_006711868.1:p.Ile4863Met
XM_006711806.3:c.14583T>G	XP_006711869.1:p.Ile4861Met
XM_006711807.3:c.14559T>G	XP_006711870.1:p.Ile4853Met
XM_006711808.3:c.14382T>G	XP_006711871.1:p.Ile4794Met
XM_006711810.3:c.14526T>G	XP_006711873.1:p.Ile4842Met
XM_017002028.1:c.14598T>G	XP_016857517.1:p.Ile4866Met
NM_001035.3:c.14565T>G MANE Select	NP_001026.2:p.Ile4855Met