Canonical Allele Identifier: CA345426889

Gene: RYR2

Linked Data

• gnomAD v4: 1-237819193-G-A
• MyVariant Identifiers: chr1:g.237982493G>A (hg19) ; chr1:g.237819193G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237819193G>A , CM000663.2:g.237819193G>A	GRCh38
NC_000001.10:g.237982493G>A , CM000663.1:g.237982493G>A	GRCh37
NC_000001.9:g.236049116G>A	NCBI36
NG_008799.2:g.781792G>A
NG_008799.3:g.782010G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*5682+1G>A	ENSP00000499659.2:n.*5682+1G>A
ENST00000659194.3:c.14572+1G>A	ENSP00000499653.3:n.14572+1G>A
ENST00000660292.2:c.14611+1G>A	ENSP00000499787.2:n.14611+1G>A
ENST00000659194.2:c.6761+1G>A
ENST00000366574.7:c.14590+1G>A MANE Select	ENSP00000355533.2:n.14590+1G>A
ENST00000360064.7:c.14539+1G>A	ENSP00000353174.7:n.14539+1G>A
ENST00000366574.6:c.14590+1G>A	ENSP00000355533.2:n.14590+1G>A
ENST00000608590.5:n.1101+1G>A
NM_001035.2:c.14590+1G>A	NP_001026.2:n.14590+1G>A
XM_006711802.2:c.14644+1G>A	XP_006711865.1:n.14644+1G>A
XM_006711803.2:c.14641+1G>A	XP_006711866.1:n.14641+1G>A
XM_006711804.2:c.14620+1G>A	XP_006711867.1:n.14620+1G>A
XM_006711805.2:c.14614+1G>A	XP_006711868.1:n.14614+1G>A
XM_006711806.2:c.14608+1G>A	XP_006711869.1:n.14608+1G>A
XM_006711807.2:c.14584+1G>A	XP_006711870.1:n.14584+1G>A
XM_006711808.2:c.14407+1G>A	XP_006711871.1:n.14407+1G>A
XM_006711810.2:c.14551+1G>A	XP_006711873.1:n.14551+1G>A
XM_006711802.3:c.14644+1G>A	XP_006711865.1:n.14644+1G>A
XM_006711803.3:c.14641+1G>A	XP_006711866.1:n.14641+1G>A
XM_006711804.3:c.14620+1G>A	XP_006711867.1:n.14620+1G>A
XM_006711805.3:c.14614+1G>A	XP_006711868.1:n.14614+1G>A
XM_006711806.3:c.14608+1G>A	XP_006711869.1:n.14608+1G>A
XM_006711807.3:c.14584+1G>A	XP_006711870.1:n.14584+1G>A
XM_006711808.3:c.14407+1G>A	XP_006711871.1:n.14407+1G>A
XM_006711810.3:c.14551+1G>A	XP_006711873.1:n.14551+1G>A
XM_017002028.1:c.14623+1G>A	XP_016857517.1:n.14623+1G>A
NM_001035.3:c.14590+1G>A MANE Select	NP_001026.2:n.14590+1G>A