Canonical Allele Identifier: CA087077

Gene: RYR2

Linked Data

• ClinVar Variation Id: 252509
• ClinVar RCV Id: RCV000238973 ; RCV001186228 ; RCV002223830 ; RCV002365250 ; RCV002519858
• dbSNP Id: rs780993255
• ExAC: 1:237791172 C / T
• gnomAD v2: 1-237791172-C-T
• gnomAD v3: 1-237627872-C-T
• gnomAD v4: 1-237627872-C-T
• COSMIC: COSM4502814 ; COSM4502815
• MyVariant Identifiers: chr1:g.237791172C>T (hg19) ; chr1:g.237627872C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237627872C>T , CM000663.2:g.237627872C>T	GRCh38
NC_000001.10:g.237791172C>T , CM000663.1:g.237791172C>T	GRCh37
NC_000001.9:g.235857795C>T	NCBI36
NG_008799.2:g.590471C>T
NG_008799.3:g.590689C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.6232C>T	ENSP00000499659.2:p.Pro2078Ser
ENST00000659194.3:c.6232C>T	ENSP00000499653.3:p.Pro2078Ser
ENST00000660292.2:c.6232C>T	ENSP00000499787.2:p.Pro2078Ser
ENST00000366574.7:c.6232C>T MANE Select	ENSP00000355533.2:p.Pro2078Ser
ENST00000360064.7:c.6184C>T	ENSP00000353174.7:p.Pro2062Ser
ENST00000366574.6:c.6232C>T	ENSP00000355533.2:p.Pro2078Ser
NM_001035.2:c.6232C>T	NP_001026.2:p.Pro2078Ser
XM_006711802.2:c.6262C>T	XP_006711865.1:p.Pro2088Ser
XM_006711803.2:c.6259C>T	XP_006711866.1:p.Pro2087Ser
XM_006711804.2:c.6262C>T	XP_006711867.1:p.Pro2088Ser
XM_006711805.2:c.6232C>T	XP_006711868.1:p.Pro2078Ser
XM_006711806.2:c.6262C>T	XP_006711869.1:p.Pro2088Ser
XM_006711807.2:c.6262C>T	XP_006711870.1:p.Pro2088Ser
XM_006711808.2:c.6262C>T	XP_006711871.1:p.Pro2088Ser
XM_006711809.2:c.6262C>T	XP_006711872.1:p.Pro2088Ser
XM_006711810.2:c.6229C>T	XP_006711873.1:p.Pro2077Ser
XR_949152.1:n.6543C>T
XM_006711802.3:c.6262C>T	XP_006711865.1:p.Pro2088Ser
XM_006711803.3:c.6259C>T	XP_006711866.1:p.Pro2087Ser
XM_006711804.3:c.6262C>T	XP_006711867.1:p.Pro2088Ser
XM_006711805.3:c.6232C>T	XP_006711868.1:p.Pro2078Ser
XM_006711806.3:c.6262C>T	XP_006711869.1:p.Pro2088Ser
XM_006711807.3:c.6262C>T	XP_006711870.1:p.Pro2088Ser
XM_006711808.3:c.6262C>T	XP_006711871.1:p.Pro2088Ser
XM_006711810.3:c.6229C>T	XP_006711873.1:p.Pro2077Ser
XM_017002028.1:c.6241C>T	XP_016857517.1:p.Pro2081Ser
XR_002957299.1:n.6576C>T
XR_949152.2:n.6576C>T
NM_001035.3:c.6232C>T MANE Select	NP_001026.2:p.Pro2078Ser