Canonical Allele Identifier: CA733285962

Gene: RYR2

Linked Data

• dbSNP Id: rs918820931
• gnomAD v3: 1-237416779-G-GAC
• gnomAD v4: 1-237416779-G-GAC
• MyVariant Identifiers: chr1:g.237580079_237580080insAC (hg19) ; chr1:g.237416779_237416780insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237416780_237416781insCA , CM000663.2:g.237416780_237416781insCA	GRCh38
NC_000001.10:g.237580080_237580081insCA , CM000663.1:g.237580080_237580081insCA	GRCh37
NC_000001.9:g.235646703_235646704insCA	NCBI36
NG_008799.2:g.379379_379380insCA
NG_008799.3:g.379597_379598insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.774-269_774-268insCA	ENSP00000499659.2:n.774-269_774-268insCA
ENST00000659194.3:c.774-269_774-268insCA	ENSP00000499653.3:n.774-269_774-268insCA
ENST00000660292.2:c.774-269_774-268insCA	ENSP00000499787.2:n.774-269_774-268insCA
ENST00000366574.7:c.774-269_774-268insCA MANE Select	ENSP00000355533.2:n.774-269_774-268insCA
ENST00000360064.7:c.726-269_726-268insCA	ENSP00000353174.7:n.726-269_726-268insCA
ENST00000366574.6:c.774-269_774-268insCA	ENSP00000355533.2:n.774-269_774-268insCA
NM_001035.2:c.774-269_774-268insCA	NP_001026.2:n.774-269_774-268insCA
XM_006711802.2:c.774-269_774-268insCA	XP_006711865.1:n.774-269_774-268insCA
XM_006711803.2:c.774-269_774-268insCA	XP_006711866.1:n.774-269_774-268insCA
XM_006711804.2:c.774-269_774-268insCA	XP_006711867.1:n.774-269_774-268insCA
XM_006711805.2:c.774-269_774-268insCA	XP_006711868.1:n.774-269_774-268insCA
XM_006711806.2:c.774-269_774-268insCA	XP_006711869.1:n.774-269_774-268insCA
XM_006711807.2:c.774-269_774-268insCA	XP_006711870.1:n.774-269_774-268insCA
XM_006711808.2:c.774-269_774-268insCA	XP_006711871.1:n.774-269_774-268insCA
XM_006711809.2:c.774-269_774-268insCA	XP_006711872.1:n.774-269_774-268insCA
XM_006711810.2:c.774-269_774-268insCA	XP_006711873.1:n.774-269_774-268insCA
XR_949152.1:n.1055-269_1055-268insCA
XM_006711802.3:c.774-269_774-268insCA	XP_006711865.1:n.774-269_774-268insCA
XM_006711803.3:c.774-269_774-268insCA	XP_006711866.1:n.774-269_774-268insCA
XM_006711804.3:c.774-269_774-268insCA	XP_006711867.1:n.774-269_774-268insCA
XM_006711805.3:c.774-269_774-268insCA	XP_006711868.1:n.774-269_774-268insCA
XM_006711806.3:c.774-269_774-268insCA	XP_006711869.1:n.774-269_774-268insCA
XM_006711807.3:c.774-269_774-268insCA	XP_006711870.1:n.774-269_774-268insCA
XM_006711808.3:c.774-269_774-268insCA	XP_006711871.1:n.774-269_774-268insCA
XM_006711810.3:c.774-269_774-268insCA	XP_006711873.1:n.774-269_774-268insCA
XM_017002028.1:c.753-269_753-268insCA	XP_016857517.1:n.753-269_753-268insCA
XR_002957299.1:n.1088-269_1088-268insCA
XR_949152.2:n.1088-269_1088-268insCA
NM_001035.3:c.774-269_774-268insCA MANE Select	NP_001026.2:n.774-269_774-268insCA