Canonical Allele Identifier: CA345424136

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972232T>G (hg19) ; chr1:g.237808932T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808932T>G , CM000663.2:g.237808932T>G	GRCh38
NC_000001.10:g.237972232T>G , CM000663.1:g.237972232T>G	GRCh37
NC_000001.9:g.236038855T>G	NCBI36
NG_008799.2:g.771531T>G
NG_008799.3:g.771749T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5422T>G	ENSP00000499659.2:n.*5422T>G
ENST00000659194.3:c.14312T>G	ENSP00000499653.3:p.Val4771Gly
ENST00000660292.2:c.14351T>G	ENSP00000499787.2:p.Val4784Gly
ENST00000659194.2:c.6501T>G
ENST00000366574.7:c.14330T>G MANE Select	ENSP00000355533.2:p.Val4777Gly
ENST00000360064.7:c.14279T>G	ENSP00000353174.7:p.Val4760Gly
ENST00000366574.6:c.14330T>G	ENSP00000355533.2:p.Val4777Gly
ENST00000608590.5:n.841T>G
NM_001035.2:c.14330T>G	NP_001026.2:p.Val4777Gly
XM_006711802.2:c.14384T>G	XP_006711865.1:p.Val4795Gly
XM_006711803.2:c.14381T>G	XP_006711866.1:p.Val4794Gly
XM_006711804.2:c.14360T>G	XP_006711867.1:p.Val4787Gly
XM_006711805.2:c.14354T>G	XP_006711868.1:p.Val4785Gly
XM_006711806.2:c.14348T>G	XP_006711869.1:p.Val4783Gly
XM_006711807.2:c.14324T>G	XP_006711870.1:p.Val4775Gly
XM_006711808.2:c.14147T>G	XP_006711871.1:p.Val4716Gly
XM_006711810.2:c.14291T>G	XP_006711873.1:p.Val4764Gly
XM_006711802.3:c.14384T>G	XP_006711865.1:p.Val4795Gly
XM_006711803.3:c.14381T>G	XP_006711866.1:p.Val4794Gly
XM_006711804.3:c.14360T>G	XP_006711867.1:p.Val4787Gly
XM_006711805.3:c.14354T>G	XP_006711868.1:p.Val4785Gly
XM_006711806.3:c.14348T>G	XP_006711869.1:p.Val4783Gly
XM_006711807.3:c.14324T>G	XP_006711870.1:p.Val4775Gly
XM_006711808.3:c.14147T>G	XP_006711871.1:p.Val4716Gly
XM_006711810.3:c.14291T>G	XP_006711873.1:p.Val4764Gly
XM_017002028.1:c.14363T>G	XP_016857517.1:p.Val4788Gly
NM_001035.3:c.14330T>G MANE Select	NP_001026.2:p.Val4777Gly