Canonical Allele Identifier: CA008063

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237793906C>T , CM000663.2:g.237793906C>T	GRCh38
NC_000001.10:g.237957206C>T , CM000663.1:g.237957206C>T	GRCh37
NC_000001.9:g.236023829C>T	NCBI36
NG_008799.2:g.756505C>T
NG_008799.3:g.756723C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*4914C>T	ENSP00000499659.2:n.*4914C>T
ENST00000659194.3:c.13804C>T	ENSP00000499653.3:p.Arg4602Trp
ENST00000660292.2:c.13843C>T	ENSP00000499787.2:p.Arg4615Trp
ENST00000659194.2:c.5993C>T
ENST00000366574.7:c.13822C>T MANE Select	ENSP00000355533.2:p.Arg4608Trp
ENST00000660292.1:c.3875C>T
ENST00000360064.7:c.13771C>T	ENSP00000353174.7:p.Arg4591Trp
ENST00000366574.6:c.13822C>T	ENSP00000355533.2:p.Arg4608Trp
ENST00000608590.5:n.333C>T
NM_001035.2:c.13822C>T	NP_001026.2:p.Arg4608Trp
XM_006711802.2:c.13876C>T	XP_006711865.1:p.Arg4626Trp
XM_006711803.2:c.13873C>T	XP_006711866.1:p.Arg4625Trp
XM_006711804.2:c.13852C>T	XP_006711867.1:p.Arg4618Trp
XM_006711805.2:c.13846C>T	XP_006711868.1:p.Arg4616Trp
XM_006711806.2:c.13840C>T	XP_006711869.1:p.Arg4614Trp
XM_006711807.2:c.13816C>T	XP_006711870.1:p.Arg4606Trp
XM_006711808.2:c.13639C>T	XP_006711871.1:p.Arg4547Trp
XM_006711810.2:c.13783C>T	XP_006711873.1:p.Arg4595Trp
XM_006711802.3:c.13876C>T	XP_006711865.1:p.Arg4626Trp
XM_006711803.3:c.13873C>T	XP_006711866.1:p.Arg4625Trp
XM_006711804.3:c.13852C>T	XP_006711867.1:p.Arg4618Trp
XM_006711805.3:c.13846C>T	XP_006711868.1:p.Arg4616Trp
XM_006711806.3:c.13840C>T	XP_006711869.1:p.Arg4614Trp
XM_006711807.3:c.13816C>T	XP_006711870.1:p.Arg4606Trp
XM_006711808.3:c.13639C>T	XP_006711871.1:p.Arg4547Trp
XM_006711810.3:c.13783C>T	XP_006711873.1:p.Arg4595Trp
XM_017002028.1:c.13855C>T	XP_016857517.1:p.Arg4619Trp
NM_001035.3:c.13822C>T MANE Select	NP_001026.2:p.Arg4608Trp