Canonical Allele Identifier: CA009637

Gene: RYR2

Linked Data

• ClinVar Variation Id: 43792
• ClinVar RCV Id: RCV000036753 ; RCV000248192 ; RCV000390606 ; RCV000771120 ; RCV001093872 ; RCV001711113
• dbSNP Id: rs7522981
• ExAC: 1:237774057 G / C
• gnomAD v2: 1-237774057-G-C
• gnomAD v3: 1-237610757-G-C
• gnomAD v4: 1-237610757-G-C
• MyVariant Identifiers: chr1:g.237774057G>C (hg19) ; chr1:g.237610757G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237610757G>C , CM000663.2:g.237610757G>C	GRCh38
NC_000001.10:g.237774057G>C , CM000663.1:g.237774057G>C	GRCh37
NC_000001.9:g.235840680G>C	NCBI36
NG_008799.2:g.573356G>C
NG_008799.3:g.573574G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.4684-5G>C	ENSP00000499659.2:n.4684-5G>C
ENST00000659194.3:c.4684-5G>C	ENSP00000499653.3:n.4684-5G>C
ENST00000660292.2:c.4684-5G>C	ENSP00000499787.2:n.4684-5G>C
ENST00000366574.7:c.4684-5G>C MANE Select	ENSP00000355533.2:n.4684-5G>C
ENST00000360064.7:c.4636-5G>C	ENSP00000353174.7:n.4636-5G>C
ENST00000366574.6:c.4684-5G>C	ENSP00000355533.2:n.4684-5G>C
NM_001035.2:c.4684-5G>C	NP_001026.2:n.4684-5G>C
XM_006711802.2:c.4714-5G>C	XP_006711865.1:n.4714-5G>C
XM_006711803.2:c.4711-5G>C	XP_006711866.1:n.4711-5G>C
XM_006711804.2:c.4714-5G>C	XP_006711867.1:n.4714-5G>C
XM_006711805.2:c.4684-5G>C	XP_006711868.1:n.4684-5G>C
XM_006711806.2:c.4714-5G>C	XP_006711869.1:n.4714-5G>C
XM_006711807.2:c.4714-5G>C	XP_006711870.1:n.4714-5G>C
XM_006711808.2:c.4714-5G>C	XP_006711871.1:n.4714-5G>C
XM_006711809.2:c.4714-5G>C	XP_006711872.1:n.4714-5G>C
XM_006711810.2:c.4681-5G>C	XP_006711873.1:n.4681-5G>C
XR_949152.1:n.4995-5G>C
XM_006711802.3:c.4714-5G>C	XP_006711865.1:n.4714-5G>C
XM_006711803.3:c.4711-5G>C	XP_006711866.1:n.4711-5G>C
XM_006711804.3:c.4714-5G>C	XP_006711867.1:n.4714-5G>C
XM_006711805.3:c.4684-5G>C	XP_006711868.1:n.4684-5G>C
XM_006711806.3:c.4714-5G>C	XP_006711869.1:n.4714-5G>C
XM_006711807.3:c.4714-5G>C	XP_006711870.1:n.4714-5G>C
XM_006711808.3:c.4714-5G>C	XP_006711871.1:n.4714-5G>C
XM_006711810.3:c.4681-5G>C	XP_006711873.1:n.4681-5G>C
XM_017002028.1:c.4693-5G>C	XP_016857517.1:n.4693-5G>C
XR_002957299.1:n.5028-5G>C
XR_949152.2:n.5028-5G>C
NM_001035.3:c.4684-5G>C MANE Select	NP_001026.2:n.4684-5G>C