Canonical Allele Identifier: CA086724

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237610825C>T , CM000663.2:g.237610825C>T	GRCh38
NC_000001.10:g.237774125C>T , CM000663.1:g.237774125C>T	GRCh37
NC_000001.9:g.235840748C>T	NCBI36
NG_008799.2:g.573424C>T
NG_008799.3:g.573642C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.4747C>T	ENSP00000499659.2:p.Pro1583Ser
ENST00000659194.3:c.4747C>T	ENSP00000499653.3:p.Pro1583Ser
ENST00000660292.2:c.4747C>T	ENSP00000499787.2:p.Pro1583Ser
ENST00000366574.7:c.4747C>T MANE Select	ENSP00000355533.2:p.Pro1583Ser
ENST00000360064.7:c.4699C>T	ENSP00000353174.7:p.Pro1567Ser
ENST00000366574.6:c.4747C>T	ENSP00000355533.2:p.Pro1583Ser
NM_001035.2:c.4747C>T	NP_001026.2:p.Pro1583Ser
XM_006711802.2:c.4777C>T	XP_006711865.1:p.Pro1593Ser
XM_006711803.2:c.4774C>T	XP_006711866.1:p.Pro1592Ser
XM_006711804.2:c.4777C>T	XP_006711867.1:p.Pro1593Ser
XM_006711805.2:c.4747C>T	XP_006711868.1:p.Pro1583Ser
XM_006711806.2:c.4777C>T	XP_006711869.1:p.Pro1593Ser
XM_006711807.2:c.4777C>T	XP_006711870.1:p.Pro1593Ser
XM_006711808.2:c.4777C>T	XP_006711871.1:p.Pro1593Ser
XM_006711809.2:c.4777C>T	XP_006711872.1:p.Pro1593Ser
XM_006711810.2:c.4744C>T	XP_006711873.1:p.Pro1582Ser
XR_949152.1:n.5058C>T
XM_006711802.3:c.4777C>T	XP_006711865.1:p.Pro1593Ser
XM_006711803.3:c.4774C>T	XP_006711866.1:p.Pro1592Ser
XM_006711804.3:c.4777C>T	XP_006711867.1:p.Pro1593Ser
XM_006711805.3:c.4747C>T	XP_006711868.1:p.Pro1583Ser
XM_006711806.3:c.4777C>T	XP_006711869.1:p.Pro1593Ser
XM_006711807.3:c.4777C>T	XP_006711870.1:p.Pro1593Ser
XM_006711808.3:c.4777C>T	XP_006711871.1:p.Pro1593Ser
XM_006711810.3:c.4744C>T	XP_006711873.1:p.Pro1582Ser
XM_017002028.1:c.4756C>T	XP_016857517.1:p.Pro1586Ser
XR_002957299.1:n.5091C>T
XR_949152.2:n.5091C>T
NM_001035.3:c.4747C>T MANE Select	NP_001026.2:p.Pro1583Ser