Canonical Allele Identifier: CA39843879

Gene: RYR2

Linked Data

• dbSNP Id: rs1019243835
• gnomAD v3: 1-237808819-C-T
• gnomAD v4: 1-237808819-C-T
• MyVariant Identifiers: chr1:g.237972119C>T (hg19) ; chr1:g.237808819C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808819C>T , CM000663.2:g.237808819C>T	GRCh38
NC_000001.10:g.237972119C>T , CM000663.1:g.237972119C>T	GRCh37
NC_000001.9:g.236038742C>T	NCBI36
NG_008799.2:g.771418C>T
NG_008799.3:g.771636C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*5391-82C>T	ENSP00000499659.2:n.*5391-82C>T
ENST00000659194.3:c.14281-82C>T	ENSP00000499653.3:n.14281-82C>T
ENST00000660292.2:c.14320-82C>T	ENSP00000499787.2:n.14320-82C>T
ENST00000659194.2:c.6470-82C>T
ENST00000366574.7:c.14299-82C>T MANE Select	ENSP00000355533.2:n.14299-82C>T
ENST00000360064.7:c.14248-82C>T	ENSP00000353174.7:n.14248-82C>T
ENST00000366574.6:c.14299-82C>T	ENSP00000355533.2:n.14299-82C>T
ENST00000608590.5:n.810-82C>T
NM_001035.2:c.14299-82C>T	NP_001026.2:n.14299-82C>T
XM_006711802.2:c.14353-82C>T	XP_006711865.1:n.14353-82C>T
XM_006711803.2:c.14350-82C>T	XP_006711866.1:n.14350-82C>T
XM_006711804.2:c.14329-82C>T	XP_006711867.1:n.14329-82C>T
XM_006711805.2:c.14323-82C>T	XP_006711868.1:n.14323-82C>T
XM_006711806.2:c.14317-82C>T	XP_006711869.1:n.14317-82C>T
XM_006711807.2:c.14293-82C>T	XP_006711870.1:n.14293-82C>T
XM_006711808.2:c.14116-82C>T	XP_006711871.1:n.14116-82C>T
XM_006711810.2:c.14260-82C>T	XP_006711873.1:n.14260-82C>T
XM_006711802.3:c.14353-82C>T	XP_006711865.1:n.14353-82C>T
XM_006711803.3:c.14350-82C>T	XP_006711866.1:n.14350-82C>T
XM_006711804.3:c.14329-82C>T	XP_006711867.1:n.14329-82C>T
XM_006711805.3:c.14323-82C>T	XP_006711868.1:n.14323-82C>T
XM_006711806.3:c.14317-82C>T	XP_006711869.1:n.14317-82C>T
XM_006711807.3:c.14293-82C>T	XP_006711870.1:n.14293-82C>T
XM_006711808.3:c.14116-82C>T	XP_006711871.1:n.14116-82C>T
XM_006711810.3:c.14260-82C>T	XP_006711873.1:n.14260-82C>T
XM_017002028.1:c.14332-82C>T	XP_016857517.1:n.14332-82C>T
NM_001035.3:c.14299-82C>T MANE Select	NP_001026.2:n.14299-82C>T