Canonical Allele Identifier: CA345413378

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947476C>T (hg19) ; chr1:g.237784176C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784176C>T , CM000663.2:g.237784176C>T	GRCh38
NC_000001.10:g.237947476C>T , CM000663.1:g.237947476C>T	GRCh37
NC_000001.9:g.236014099C>T	NCBI36
NG_008799.2:g.746775C>T
NG_008799.3:g.746993C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3556C>T	ENSP00000499659.2:n.*3556C>T
ENST00000659194.3:c.12452C>T	ENSP00000499653.3:p.Ser4151Phe
ENST00000660292.2:c.12485C>T	ENSP00000499787.2:p.Ser4162Phe
ENST00000659194.2:c.4641C>T
ENST00000366574.7:c.12464C>T MANE Select	ENSP00000355533.2:p.Ser4155Phe
ENST00000659194.1:c.4641C>T
ENST00000660292.1:c.2517C>T
ENST00000360064.7:c.12416C>T	ENSP00000353174.7:p.Ser4139Phe
ENST00000366574.6:c.12464C>T	ENSP00000355533.2:p.Ser4155Phe
ENST00000609119.1:n.3659C>T
NM_001035.2:c.12464C>T	NP_001026.2:p.Ser4155Phe
XM_006711802.2:c.12518C>T	XP_006711865.1:p.Ser4173Phe
XM_006711803.2:c.12515C>T	XP_006711866.1:p.Ser4172Phe
XM_006711804.2:c.12494C>T	XP_006711867.1:p.Ser4165Phe
XM_006711805.2:c.12488C>T	XP_006711868.1:p.Ser4163Phe
XM_006711806.2:c.12482C>T	XP_006711869.1:p.Ser4161Phe
XM_006711807.2:c.12458C>T	XP_006711870.1:p.Ser4153Phe
XM_006711808.2:c.12281C>T	XP_006711871.1:p.Ser4094Phe
XM_006711810.2:c.12425C>T	XP_006711873.1:p.Ser4142Phe
XM_006711802.3:c.12518C>T	XP_006711865.1:p.Ser4173Phe
XM_006711803.3:c.12515C>T	XP_006711866.1:p.Ser4172Phe
XM_006711804.3:c.12494C>T	XP_006711867.1:p.Ser4165Phe
XM_006711805.3:c.12488C>T	XP_006711868.1:p.Ser4163Phe
XM_006711806.3:c.12482C>T	XP_006711869.1:p.Ser4161Phe
XM_006711807.3:c.12458C>T	XP_006711870.1:p.Ser4153Phe
XM_006711808.3:c.12281C>T	XP_006711871.1:p.Ser4094Phe
XM_006711810.3:c.12425C>T	XP_006711873.1:p.Ser4142Phe
XM_017002028.1:c.12497C>T	XP_016857517.1:p.Ser4166Phe
NM_001035.3:c.12464C>T MANE Select	NP_001026.2:p.Ser4155Phe