Canonical Allele Identifier: CA345413777

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947638C>A (hg19) ; chr1:g.237784338C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784338C>A , CM000663.2:g.237784338C>A	GRCh38
NC_000001.10:g.237947638C>A , CM000663.1:g.237947638C>A	GRCh37
NC_000001.9:g.236014261C>A	NCBI36
NG_008799.2:g.746937C>A
NG_008799.3:g.747155C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3718C>A	ENSP00000499659.2:n.*3718C>A
ENST00000659194.3:c.12614C>A	ENSP00000499653.3:p.Ser4205Ter
ENST00000660292.2:c.12647C>A	ENSP00000499787.2:p.Ser4216Ter
ENST00000659194.2:c.4803C>A
ENST00000366574.7:c.12626C>A MANE Select	ENSP00000355533.2:p.Ser4209Ter
ENST00000659194.1:c.4803C>A
ENST00000660292.1:c.2679C>A
ENST00000360064.7:c.12578C>A	ENSP00000353174.7:p.Ser4193Ter
ENST00000366574.6:c.12626C>A	ENSP00000355533.2:p.Ser4209Ter
ENST00000609119.1:n.3821C>A
NM_001035.2:c.12626C>A	NP_001026.2:p.Ser4209Ter
XM_006711802.2:c.12680C>A	XP_006711865.1:p.Ser4227Ter
XM_006711803.2:c.12677C>A	XP_006711866.1:p.Ser4226Ter
XM_006711804.2:c.12656C>A	XP_006711867.1:p.Ser4219Ter
XM_006711805.2:c.12650C>A	XP_006711868.1:p.Ser4217Ter
XM_006711806.2:c.12644C>A	XP_006711869.1:p.Ser4215Ter
XM_006711807.2:c.12620C>A	XP_006711870.1:p.Ser4207Ter
XM_006711808.2:c.12443C>A	XP_006711871.1:p.Ser4148Ter
XM_006711810.2:c.12587C>A	XP_006711873.1:p.Ser4196Ter
XM_006711802.3:c.12680C>A	XP_006711865.1:p.Ser4227Ter
XM_006711803.3:c.12677C>A	XP_006711866.1:p.Ser4226Ter
XM_006711804.3:c.12656C>A	XP_006711867.1:p.Ser4219Ter
XM_006711805.3:c.12650C>A	XP_006711868.1:p.Ser4217Ter
XM_006711806.3:c.12644C>A	XP_006711869.1:p.Ser4215Ter
XM_006711807.3:c.12620C>A	XP_006711870.1:p.Ser4207Ter
XM_006711808.3:c.12443C>A	XP_006711871.1:p.Ser4148Ter
XM_006711810.3:c.12587C>A	XP_006711873.1:p.Ser4196Ter
XM_017002028.1:c.12659C>A	XP_016857517.1:p.Ser4220Ter
NM_001035.3:c.12626C>A MANE Select	NP_001026.2:p.Ser4209Ter