Canonical Allele Identifier: CA423861542

Gene: RYR2

Linked Data

• ClinVar Variation Id: 512805
• ClinVar RCV Id: RCV000602027 ; RCV001181547 ; RCV004024958 ; RCV004002559 ; RCV003525925
• dbSNP Id: rs1454549719
• gnomAD v2: 1-237494241-C-T
• gnomAD v3: 1-237330941-C-T
• gnomAD v4: 1-237330941-C-T
• MyVariant Identifiers: chr1:g.237494241C>T (hg19) ; chr1:g.237330941C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237330941C>T , CM000663.2:g.237330941C>T	GRCh38
NC_000001.10:g.237494241C>T , CM000663.1:g.237494241C>T	GRCh37
NC_000001.9:g.235560864C>T	NCBI36
NG_008799.2:g.293540C>T
NG_008799.3:g.293758C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.232C>T	ENSP00000499659.2:p.Leu78=
ENST00000659194.3:c.232C>T	ENSP00000499653.3:p.Leu78=
ENST00000660292.2:c.232C>T	ENSP00000499787.2:p.Leu78=
ENST00000366574.7:c.232C>T MANE Select	ENSP00000355533.2:p.Leu78=
ENST00000360064.7:c.184C>T	ENSP00000353174.7:p.Leu62=
ENST00000366574.6:c.232C>T	ENSP00000355533.2:p.Leu78=
NM_001035.2:c.232C>T	NP_001026.2:p.Leu78=
XM_006711802.2:c.232C>T	XP_006711865.1:p.Leu78=
XM_006711803.2:c.232C>T	XP_006711866.1:p.Leu78=
XM_006711804.2:c.232C>T	XP_006711867.1:p.Leu78=
XM_006711805.2:c.232C>T	XP_006711868.1:p.Leu78=
XM_006711806.2:c.232C>T	XP_006711869.1:p.Leu78=
XM_006711807.2:c.232C>T	XP_006711870.1:p.Leu78=
XM_006711808.2:c.232C>T	XP_006711871.1:p.Leu78=
XM_006711809.2:c.232C>T	XP_006711872.1:p.Leu78=
XM_006711810.2:c.232C>T	XP_006711873.1:p.Leu78=
XR_949152.1:n.513C>T
XM_006711802.3:c.232C>T	XP_006711865.1:p.Leu78=
XM_006711803.3:c.232C>T	XP_006711866.1:p.Leu78=
XM_006711804.3:c.232C>T	XP_006711867.1:p.Leu78=
XM_006711805.3:c.232C>T	XP_006711868.1:p.Leu78=
XM_006711806.3:c.232C>T	XP_006711869.1:p.Leu78=
XM_006711807.3:c.232C>T	XP_006711870.1:p.Leu78=
XM_006711808.3:c.232C>T	XP_006711871.1:p.Leu78=
XM_006711810.3:c.232C>T	XP_006711873.1:p.Leu78=
XM_017002028.1:c.232C>T	XP_016857517.1:p.Leu78=
XR_002957299.1:n.546C>T
XR_949152.2:n.546C>T
NM_001035.3:c.232C>T MANE Select	NP_001026.2:p.Leu78=