Canonical Allele Identifier: CA008087

Gene: RYR2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237798037G>T , CM000663.2:g.237798037G>T	GRCh38
NC_000001.10:g.237961337G>T , CM000663.1:g.237961337G>T	GRCh37
NC_000001.9:g.236027960G>T	NCBI36
NG_008799.2:g.760636G>T
NG_008799.3:g.760854G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5049G>T	ENSP00000499659.2:n.*5049G>T
ENST00000659194.3:c.13939G>T	ENSP00000499653.3:p.Val4647Phe
ENST00000660292.2:c.13978G>T	ENSP00000499787.2:p.Val4660Phe
ENST00000659194.2:c.6128G>T
ENST00000366574.7:c.13957G>T MANE Select	ENSP00000355533.2:p.Val4653Phe
ENST00000360064.7:c.13906G>T	ENSP00000353174.7:p.Val4636Phe
ENST00000366574.6:c.13957G>T	ENSP00000355533.2:p.Val4653Phe
ENST00000608590.5:n.468G>T
NM_001035.2:c.13957G>T	NP_001026.2:p.Val4653Phe
XM_006711802.2:c.14011G>T	XP_006711865.1:p.Val4671Phe
XM_006711803.2:c.14008G>T	XP_006711866.1:p.Val4670Phe
XM_006711804.2:c.13987G>T	XP_006711867.1:p.Val4663Phe
XM_006711805.2:c.13981G>T	XP_006711868.1:p.Val4661Phe
XM_006711806.2:c.13975G>T	XP_006711869.1:p.Val4659Phe
XM_006711807.2:c.13951G>T	XP_006711870.1:p.Val4651Phe
XM_006711808.2:c.13774G>T	XP_006711871.1:p.Val4592Phe
XM_006711810.2:c.13918G>T	XP_006711873.1:p.Val4640Phe
XM_006711802.3:c.14011G>T	XP_006711865.1:p.Val4671Phe
XM_006711803.3:c.14008G>T	XP_006711866.1:p.Val4670Phe
XM_006711804.3:c.13987G>T	XP_006711867.1:p.Val4663Phe
XM_006711805.3:c.13981G>T	XP_006711868.1:p.Val4661Phe
XM_006711806.3:c.13975G>T	XP_006711869.1:p.Val4659Phe
XM_006711807.3:c.13951G>T	XP_006711870.1:p.Val4651Phe
XM_006711808.3:c.13774G>T	XP_006711871.1:p.Val4592Phe
XM_006711810.3:c.13918G>T	XP_006711873.1:p.Val4640Phe
XM_017002028.1:c.13990G>T	XP_016857517.1:p.Val4664Phe
NM_001035.3:c.13957G>T MANE Select	NP_001026.2:p.Val4653Phe