Canonical Allele Identifier: CA345424461

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972304C>A (hg19) ; chr1:g.237809004C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809004C>A , CM000663.2:g.237809004C>A	GRCh38
NC_000001.10:g.237972304C>A , CM000663.1:g.237972304C>A	GRCh37
NC_000001.9:g.236038927C>A	NCBI36
NG_008799.2:g.771603C>A
NG_008799.3:g.771821C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5494C>A	ENSP00000499659.2:n.*5494C>A
ENST00000659194.3:c.14384C>A	ENSP00000499653.3:p.Thr4795Lys
ENST00000660292.2:c.14423C>A	ENSP00000499787.2:p.Thr4808Lys
ENST00000659194.2:c.6573C>A
ENST00000366574.7:c.14402C>A MANE Select	ENSP00000355533.2:p.Thr4801Lys
ENST00000360064.7:c.14351C>A	ENSP00000353174.7:p.Thr4784Lys
ENST00000366574.6:c.14402C>A	ENSP00000355533.2:p.Thr4801Lys
ENST00000608590.5:n.913C>A
NM_001035.2:c.14402C>A	NP_001026.2:p.Thr4801Lys
XM_006711802.2:c.14456C>A	XP_006711865.1:p.Thr4819Lys
XM_006711803.2:c.14453C>A	XP_006711866.1:p.Thr4818Lys
XM_006711804.2:c.14432C>A	XP_006711867.1:p.Thr4811Lys
XM_006711805.2:c.14426C>A	XP_006711868.1:p.Thr4809Lys
XM_006711806.2:c.14420C>A	XP_006711869.1:p.Thr4807Lys
XM_006711807.2:c.14396C>A	XP_006711870.1:p.Thr4799Lys
XM_006711808.2:c.14219C>A	XP_006711871.1:p.Thr4740Lys
XM_006711810.2:c.14363C>A	XP_006711873.1:p.Thr4788Lys
XM_006711802.3:c.14456C>A	XP_006711865.1:p.Thr4819Lys
XM_006711803.3:c.14453C>A	XP_006711866.1:p.Thr4818Lys
XM_006711804.3:c.14432C>A	XP_006711867.1:p.Thr4811Lys
XM_006711805.3:c.14426C>A	XP_006711868.1:p.Thr4809Lys
XM_006711806.3:c.14420C>A	XP_006711869.1:p.Thr4807Lys
XM_006711807.3:c.14396C>A	XP_006711870.1:p.Thr4799Lys
XM_006711808.3:c.14219C>A	XP_006711871.1:p.Thr4740Lys
XM_006711810.3:c.14363C>A	XP_006711873.1:p.Thr4788Lys
XM_017002028.1:c.14435C>A	XP_016857517.1:p.Thr4812Lys
NM_001035.3:c.14402C>A MANE Select	NP_001026.2:p.Thr4801Lys