Canonical Allele Identifier: CA008317
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 201359
ClinVar RCV Id: RCV000182848
dbSNP Id: rs794728806
MyVariant Identifiers: chr1:g.237991713G>C (hg19) chr1:g.237828413G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237828413G>C , CM000663.2:g.237828413G>C GRCh38
NC_000001.10:g.237991713G>C , CM000663.1:g.237991713G>C GRCh37
NC_000001.9:g.236058336G>C NCBI36
NG_008799.2:g.791012G>C
NG_008799.3:g.791230G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000609119.2:c.*5715G>C ENSP00000499659.2:n.*5715G>C
ENST00000659194.3:c.14605G>C ENSP00000499653.3:p.Asp4869His
ENST00000660292.2:c.14644G>C ENSP00000499787.2:p.Asp4882His
ENST00000659194.2:c.6794G>C
ENST00000366574.7:c.14623G>C MANE Select ENSP00000355533.2:p.Asp4875His
ENST00000360064.7:c.14572G>C ENSP00000353174.7:p.Asp4858His
ENST00000366574.6:c.14623G>C ENSP00000355533.2:p.Asp4875His
ENST00000608590.5:n.1134G>C
NM_001035.2:c.14623G>C NP_001026.2:p.Asp4875His
XM_006711802.2:c.14677G>C XP_006711865.1:p.Asp4893His
XM_006711803.2:c.14674G>C XP_006711866.1:p.Asp4892His
XM_006711804.2:c.14653G>C XP_006711867.1:p.Asp4885His
XM_006711805.2:c.14647G>C XP_006711868.1:p.Asp4883His
XM_006711806.2:c.14641G>C XP_006711869.1:p.Asp4881His
XM_006711807.2:c.14617G>C XP_006711870.1:p.Asp4873His
XM_006711808.2:c.14440G>C XP_006711871.1:p.Asp4814His
XM_006711810.2:c.14584G>C XP_006711873.1:p.Asp4862His
XM_006711802.3:c.14677G>C XP_006711865.1:p.Asp4893His
XM_006711803.3:c.14674G>C XP_006711866.1:p.Asp4892His
XM_006711804.3:c.14653G>C XP_006711867.1:p.Asp4885His
XM_006711805.3:c.14647G>C XP_006711868.1:p.Asp4883His
XM_006711806.3:c.14641G>C XP_006711869.1:p.Asp4881His
XM_006711807.3:c.14617G>C XP_006711870.1:p.Asp4873His
XM_006711808.3:c.14440G>C XP_006711871.1:p.Asp4814His
XM_006711810.3:c.14584G>C XP_006711873.1:p.Asp4862His
XM_017002028.1:c.14656G>C XP_016857517.1:p.Asp4886His
NM_001035.3:c.14623G>C MANE Select NP_001026.2:p.Asp4875His
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