Canonical Allele Identifier: CA345413760

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947631T>A (hg19) ; chr1:g.237784331T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784331T>A , CM000663.2:g.237784331T>A	GRCh38
NC_000001.10:g.237947631T>A , CM000663.1:g.237947631T>A	GRCh37
NC_000001.9:g.236014254T>A	NCBI36
NG_008799.2:g.746930T>A
NG_008799.3:g.747148T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3711T>A	ENSP00000499659.2:n.*3711T>A
ENST00000659194.3:c.12607T>A	ENSP00000499653.3:p.Ser4203Thr
ENST00000660292.2:c.12640T>A	ENSP00000499787.2:p.Ser4214Thr
ENST00000659194.2:c.4796T>A
ENST00000366574.7:c.12619T>A MANE Select	ENSP00000355533.2:p.Ser4207Thr
ENST00000659194.1:c.4796T>A
ENST00000660292.1:c.2672T>A
ENST00000360064.7:c.12571T>A	ENSP00000353174.7:p.Ser4191Thr
ENST00000366574.6:c.12619T>A	ENSP00000355533.2:p.Ser4207Thr
ENST00000609119.1:n.3814T>A
NM_001035.2:c.12619T>A	NP_001026.2:p.Ser4207Thr
XM_006711802.2:c.12673T>A	XP_006711865.1:p.Ser4225Thr
XM_006711803.2:c.12670T>A	XP_006711866.1:p.Ser4224Thr
XM_006711804.2:c.12649T>A	XP_006711867.1:p.Ser4217Thr
XM_006711805.2:c.12643T>A	XP_006711868.1:p.Ser4215Thr
XM_006711806.2:c.12637T>A	XP_006711869.1:p.Ser4213Thr
XM_006711807.2:c.12613T>A	XP_006711870.1:p.Ser4205Thr
XM_006711808.2:c.12436T>A	XP_006711871.1:p.Ser4146Thr
XM_006711810.2:c.12580T>A	XP_006711873.1:p.Ser4194Thr
XM_006711802.3:c.12673T>A	XP_006711865.1:p.Ser4225Thr
XM_006711803.3:c.12670T>A	XP_006711866.1:p.Ser4224Thr
XM_006711804.3:c.12649T>A	XP_006711867.1:p.Ser4217Thr
XM_006711805.3:c.12643T>A	XP_006711868.1:p.Ser4215Thr
XM_006711806.3:c.12637T>A	XP_006711869.1:p.Ser4213Thr
XM_006711807.3:c.12613T>A	XP_006711870.1:p.Ser4205Thr
XM_006711808.3:c.12436T>A	XP_006711871.1:p.Ser4146Thr
XM_006711810.3:c.12580T>A	XP_006711873.1:p.Ser4194Thr
XM_017002028.1:c.12652T>A	XP_016857517.1:p.Ser4218Thr
NM_001035.3:c.12619T>A MANE Select	NP_001026.2:p.Ser4207Thr