Canonical Allele Identifier: CA733309950

Gene: RYR2

Linked Data

• dbSNP Id: rs1488879419
• gnomAD v4: 1-237641057-C-G
• MyVariant Identifiers: chr1:g.237804357C>G (hg19) ; chr1:g.237641057C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237641057C>G , CM000663.2:g.237641057C>G	GRCh38
NC_000001.10:g.237804357C>G , CM000663.1:g.237804357C>G	GRCh37
NC_000001.9:g.235870980C>G	NCBI36
NG_008799.2:g.603656C>G
NG_008799.3:g.603874C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.7221+55C>G	ENSP00000499659.2:n.7221+55C>G
ENST00000659194.3:c.7221+55C>G	ENSP00000499653.3:n.7221+55C>G
ENST00000660292.2:c.7221+55C>G	ENSP00000499787.2:n.7221+55C>G
ENST00000366574.7:c.7221+55C>G MANE Select	ENSP00000355533.2:n.7221+55C>G
ENST00000360064.7:c.7173+55C>G	ENSP00000353174.7:n.7173+55C>G
ENST00000366574.6:c.7221+55C>G	ENSP00000355533.2:n.7221+55C>G
NM_001035.2:c.7221+55C>G	NP_001026.2:n.7221+55C>G
XM_006711802.2:c.7251+55C>G	XP_006711865.1:n.7251+55C>G
XM_006711803.2:c.7248+55C>G	XP_006711866.1:n.7248+55C>G
XM_006711804.2:c.7251+55C>G	XP_006711867.1:n.7251+55C>G
XM_006711805.2:c.7221+55C>G	XP_006711868.1:n.7221+55C>G
XM_006711806.2:c.7251+55C>G	XP_006711869.1:n.7251+55C>G
XM_006711807.2:c.7251+55C>G	XP_006711870.1:n.7251+55C>G
XM_006711808.2:c.7251+55C>G	XP_006711871.1:n.7251+55C>G
XM_006711809.2:c.7251+55C>G	XP_006711872.1:n.7251+55C>G
XM_006711810.2:c.7218+55C>G	XP_006711873.1:n.7218+55C>G
XR_949152.1:n.7532+55C>G
XM_006711802.3:c.7251+55C>G	XP_006711865.1:n.7251+55C>G
XM_006711803.3:c.7248+55C>G	XP_006711866.1:n.7248+55C>G
XM_006711804.3:c.7251+55C>G	XP_006711867.1:n.7251+55C>G
XM_006711805.3:c.7221+55C>G	XP_006711868.1:n.7221+55C>G
XM_006711806.3:c.7251+55C>G	XP_006711869.1:n.7251+55C>G
XM_006711807.3:c.7251+55C>G	XP_006711870.1:n.7251+55C>G
XM_006711808.3:c.7251+55C>G	XP_006711871.1:n.7251+55C>G
XM_006711810.3:c.7218+55C>G	XP_006711873.1:n.7218+55C>G
XM_017002028.1:c.7230+55C>G	XP_016857517.1:n.7230+55C>G
XR_002957299.1:n.7565+55C>G
XR_949152.2:n.7565+55C>G
NM_001035.3:c.7221+55C>G MANE Select	NP_001026.2:n.7221+55C>G