Canonical Allele Identifier: CA085192

Gene: RYR2

Linked Data

• dbSNP Id: rs778416534
• ExAC: 1:237947516 C / T
• gnomAD v2: 1-237947516-C-T
• gnomAD v4: 1-237784216-C-T
• MyVariant Identifiers: chr1:g.237947516C>T (hg19) ; chr1:g.237784216C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784216C>T , CM000663.2:g.237784216C>T	GRCh38
NC_000001.10:g.237947516C>T , CM000663.1:g.237947516C>T	GRCh37
NC_000001.9:g.236014139C>T	NCBI36
NG_008799.2:g.746815C>T
NG_008799.3:g.747033C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3596C>T	ENSP00000499659.2:n.*3596C>T
ENST00000659194.3:c.12492C>T	ENSP00000499653.3:p.Ser4164=
ENST00000660292.2:c.12525C>T	ENSP00000499787.2:p.Ser4175=
ENST00000659194.2:c.4681C>T
ENST00000366574.7:c.12504C>T MANE Select	ENSP00000355533.2:p.Ser4168=
ENST00000659194.1:c.4681C>T
ENST00000660292.1:c.2557C>T
ENST00000360064.7:c.12456C>T	ENSP00000353174.7:p.Ser4152=
ENST00000366574.6:c.12504C>T	ENSP00000355533.2:p.Ser4168=
ENST00000609119.1:n.3699C>T
NM_001035.2:c.12504C>T	NP_001026.2:p.Ser4168=
XM_006711802.2:c.12558C>T	XP_006711865.1:p.Ser4186=
XM_006711803.2:c.12555C>T	XP_006711866.1:p.Ser4185=
XM_006711804.2:c.12534C>T	XP_006711867.1:p.Ser4178=
XM_006711805.2:c.12528C>T	XP_006711868.1:p.Ser4176=
XM_006711806.2:c.12522C>T	XP_006711869.1:p.Ser4174=
XM_006711807.2:c.12498C>T	XP_006711870.1:p.Ser4166=
XM_006711808.2:c.12321C>T	XP_006711871.1:p.Ser4107=
XM_006711810.2:c.12465C>T	XP_006711873.1:p.Ser4155=
XM_006711802.3:c.12558C>T	XP_006711865.1:p.Ser4186=
XM_006711803.3:c.12555C>T	XP_006711866.1:p.Ser4185=
XM_006711804.3:c.12534C>T	XP_006711867.1:p.Ser4178=
XM_006711805.3:c.12528C>T	XP_006711868.1:p.Ser4176=
XM_006711806.3:c.12522C>T	XP_006711869.1:p.Ser4174=
XM_006711807.3:c.12498C>T	XP_006711870.1:p.Ser4166=
XM_006711808.3:c.12321C>T	XP_006711871.1:p.Ser4107=
XM_006711810.3:c.12465C>T	XP_006711873.1:p.Ser4155=
XM_017002028.1:c.12537C>T	XP_016857517.1:p.Ser4179=
NM_001035.3:c.12504C>T MANE Select	NP_001026.2:p.Ser4168=