Canonical Allele Identifier: CA345413789

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947643T>G (hg19) ; chr1:g.237784343T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784343T>G , CM000663.2:g.237784343T>G	GRCh38
NC_000001.10:g.237947643T>G , CM000663.1:g.237947643T>G	GRCh37
NC_000001.9:g.236014266T>G	NCBI36
NG_008799.2:g.746942T>G
NG_008799.3:g.747160T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3723T>G	ENSP00000499659.2:n.*3723T>G
ENST00000659194.3:c.12619T>G	ENSP00000499653.3:p.Leu4207Val
ENST00000660292.2:c.12652T>G	ENSP00000499787.2:p.Leu4218Val
ENST00000659194.2:c.4808T>G
ENST00000366574.7:c.12631T>G MANE Select	ENSP00000355533.2:p.Leu4211Val
ENST00000659194.1:c.4808T>G
ENST00000660292.1:c.2684T>G
ENST00000360064.7:c.12583T>G	ENSP00000353174.7:p.Leu4195Val
ENST00000366574.6:c.12631T>G	ENSP00000355533.2:p.Leu4211Val
ENST00000609119.1:n.3826T>G
NM_001035.2:c.12631T>G	NP_001026.2:p.Leu4211Val
XM_006711802.2:c.12685T>G	XP_006711865.1:p.Leu4229Val
XM_006711803.2:c.12682T>G	XP_006711866.1:p.Leu4228Val
XM_006711804.2:c.12661T>G	XP_006711867.1:p.Leu4221Val
XM_006711805.2:c.12655T>G	XP_006711868.1:p.Leu4219Val
XM_006711806.2:c.12649T>G	XP_006711869.1:p.Leu4217Val
XM_006711807.2:c.12625T>G	XP_006711870.1:p.Leu4209Val
XM_006711808.2:c.12448T>G	XP_006711871.1:p.Leu4150Val
XM_006711810.2:c.12592T>G	XP_006711873.1:p.Leu4198Val
XM_006711802.3:c.12685T>G	XP_006711865.1:p.Leu4229Val
XM_006711803.3:c.12682T>G	XP_006711866.1:p.Leu4228Val
XM_006711804.3:c.12661T>G	XP_006711867.1:p.Leu4221Val
XM_006711805.3:c.12655T>G	XP_006711868.1:p.Leu4219Val
XM_006711806.3:c.12649T>G	XP_006711869.1:p.Leu4217Val
XM_006711807.3:c.12625T>G	XP_006711870.1:p.Leu4209Val
XM_006711808.3:c.12448T>G	XP_006711871.1:p.Leu4150Val
XM_006711810.3:c.12592T>G	XP_006711873.1:p.Leu4198Val
XM_017002028.1:c.12664T>G	XP_016857517.1:p.Leu4222Val
NM_001035.3:c.12631T>G MANE Select	NP_001026.2:p.Leu4211Val