Canonical Allele Identifier: CA085006

Gene: RYR2

Linked Data

• dbSNP Id: rs545586663
• ExAC: 1:237935272 T / C
• gnomAD v2: 1-237935272-T-C
• gnomAD v3: 1-237771972-T-C
• gnomAD v4: 1-237771972-T-C
• MyVariant Identifiers: chr1:g.237935272T>C (hg19) ; chr1:g.237771972T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237771972T>C , CM000663.2:g.237771972T>C	GRCh38
NC_000001.10:g.237935272T>C , CM000663.1:g.237935272T>C	GRCh37
NC_000001.9:g.236001895T>C	NCBI36
NG_008799.2:g.734571T>C
NG_008799.3:g.734789T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2650-40T>C	ENSP00000499659.2:n.*2650-40T>C
ENST00000659194.3:c.11546-40T>C	ENSP00000499653.3:n.11546-40T>C
ENST00000660292.2:c.11579-40T>C	ENSP00000499787.2:n.11579-40T>C
ENST00000659194.2:c.3735-40T>C
ENST00000366574.7:c.11558-40T>C MANE Select	ENSP00000355533.2:n.11558-40T>C
ENST00000659194.1:c.3735-40T>C
ENST00000660292.1:c.1611-40T>C
ENST00000360064.7:c.11510-40T>C	ENSP00000353174.7:n.11510-40T>C
ENST00000366574.6:c.11558-40T>C	ENSP00000355533.2:n.11558-40T>C
ENST00000609119.1:n.2753-40T>C
NM_001035.2:c.11558-40T>C	NP_001026.2:n.11558-40T>C
XM_006711802.2:c.11612-40T>C	XP_006711865.1:n.11612-40T>C
XM_006711803.2:c.11609-40T>C	XP_006711866.1:n.11609-40T>C
XM_006711804.2:c.11588-40T>C	XP_006711867.1:n.11588-40T>C
XM_006711805.2:c.11582-40T>C	XP_006711868.1:n.11582-40T>C
XM_006711806.2:c.11576-40T>C	XP_006711869.1:n.11576-40T>C
XM_006711807.2:c.11552-40T>C	XP_006711870.1:n.11552-40T>C
XM_006711808.2:c.11375-40T>C	XP_006711871.1:n.11375-40T>C
XM_006711810.2:c.11519-40T>C	XP_006711873.1:n.11519-40T>C
XM_006711802.3:c.11612-40T>C	XP_006711865.1:n.11612-40T>C
XM_006711803.3:c.11609-40T>C	XP_006711866.1:n.11609-40T>C
XM_006711804.3:c.11588-40T>C	XP_006711867.1:n.11588-40T>C
XM_006711805.3:c.11582-40T>C	XP_006711868.1:n.11582-40T>C
XM_006711806.3:c.11576-40T>C	XP_006711869.1:n.11576-40T>C
XM_006711807.3:c.11552-40T>C	XP_006711870.1:n.11552-40T>C
XM_006711808.3:c.11375-40T>C	XP_006711871.1:n.11375-40T>C
XM_006711810.3:c.11519-40T>C	XP_006711873.1:n.11519-40T>C
XM_017002028.1:c.11591-40T>C	XP_016857517.1:n.11591-40T>C
NM_001035.3:c.11558-40T>C MANE Select	NP_001026.2:n.11558-40T>C