Canonical Allele Identifier: CA529536641

Gene: RYR2

Linked Data

• dbSNP Id: rs1252558372
• gnomAD v2: 1-237580069-G-GAT
• gnomAD v3: 1-237416769-G-GAT
• gnomAD v4: 1-237416769-G-GAT
• MyVariant Identifiers: chr1:g.237580069_237580070insAT (hg19) ; chr1:g.237416769_237416770insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237416770_237416771insTA , CM000663.2:g.237416770_237416771insTA	GRCh38
NC_000001.10:g.237580070_237580071insTA , CM000663.1:g.237580070_237580071insTA	GRCh37
NC_000001.9:g.235646693_235646694insTA	NCBI36
NG_008799.2:g.379369_379370insTA
NG_008799.3:g.379587_379588insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.774-279_774-278insTA	ENSP00000499659.2:n.774-279_774-278insTA
ENST00000659194.3:c.774-279_774-278insTA	ENSP00000499653.3:n.774-279_774-278insTA
ENST00000660292.2:c.774-279_774-278insTA	ENSP00000499787.2:n.774-279_774-278insTA
ENST00000366574.7:c.774-279_774-278insTA MANE Select	ENSP00000355533.2:n.774-279_774-278insTA
ENST00000360064.7:c.726-279_726-278insTA	ENSP00000353174.7:n.726-279_726-278insTA
ENST00000366574.6:c.774-279_774-278insTA	ENSP00000355533.2:n.774-279_774-278insTA
NM_001035.2:c.774-279_774-278insTA	NP_001026.2:n.774-279_774-278insTA
XM_006711802.2:c.774-279_774-278insTA	XP_006711865.1:n.774-279_774-278insTA
XM_006711803.2:c.774-279_774-278insTA	XP_006711866.1:n.774-279_774-278insTA
XM_006711804.2:c.774-279_774-278insTA	XP_006711867.1:n.774-279_774-278insTA
XM_006711805.2:c.774-279_774-278insTA	XP_006711868.1:n.774-279_774-278insTA
XM_006711806.2:c.774-279_774-278insTA	XP_006711869.1:n.774-279_774-278insTA
XM_006711807.2:c.774-279_774-278insTA	XP_006711870.1:n.774-279_774-278insTA
XM_006711808.2:c.774-279_774-278insTA	XP_006711871.1:n.774-279_774-278insTA
XM_006711809.2:c.774-279_774-278insTA	XP_006711872.1:n.774-279_774-278insTA
XM_006711810.2:c.774-279_774-278insTA	XP_006711873.1:n.774-279_774-278insTA
XR_949152.1:n.1055-279_1055-278insTA
XM_006711802.3:c.774-279_774-278insTA	XP_006711865.1:n.774-279_774-278insTA
XM_006711803.3:c.774-279_774-278insTA	XP_006711866.1:n.774-279_774-278insTA
XM_006711804.3:c.774-279_774-278insTA	XP_006711867.1:n.774-279_774-278insTA
XM_006711805.3:c.774-279_774-278insTA	XP_006711868.1:n.774-279_774-278insTA
XM_006711806.3:c.774-279_774-278insTA	XP_006711869.1:n.774-279_774-278insTA
XM_006711807.3:c.774-279_774-278insTA	XP_006711870.1:n.774-279_774-278insTA
XM_006711808.3:c.774-279_774-278insTA	XP_006711871.1:n.774-279_774-278insTA
XM_006711810.3:c.774-279_774-278insTA	XP_006711873.1:n.774-279_774-278insTA
XM_017002028.1:c.753-279_753-278insTA	XP_016857517.1:n.753-279_753-278insTA
XR_002957299.1:n.1088-279_1088-278insTA
XR_949152.2:n.1088-279_1088-278insTA
NM_001035.3:c.774-279_774-278insTA MANE Select	NP_001026.2:n.774-279_774-278insTA