Canonical Allele Identifier: CA345424069

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972223T>G (hg19) ; chr1:g.237808923T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808923T>G , CM000663.2:g.237808923T>G	GRCh38
NC_000001.10:g.237972223T>G , CM000663.1:g.237972223T>G	GRCh37
NC_000001.9:g.236038846T>G	NCBI36
NG_008799.2:g.771522T>G
NG_008799.3:g.771740T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5413T>G	ENSP00000499659.2:n.*5413T>G
ENST00000659194.3:c.14303T>G	ENSP00000499653.3:p.Leu4768Ter
ENST00000660292.2:c.14342T>G	ENSP00000499787.2:p.Leu4781Ter
ENST00000659194.2:c.6492T>G
ENST00000366574.7:c.14321T>G MANE Select	ENSP00000355533.2:p.Leu4774Ter
ENST00000360064.7:c.14270T>G	ENSP00000353174.7:p.Leu4757Ter
ENST00000366574.6:c.14321T>G	ENSP00000355533.2:p.Leu4774Ter
ENST00000608590.5:n.832T>G
NM_001035.2:c.14321T>G	NP_001026.2:p.Leu4774Ter
XM_006711802.2:c.14375T>G	XP_006711865.1:p.Leu4792Ter
XM_006711803.2:c.14372T>G	XP_006711866.1:p.Leu4791Ter
XM_006711804.2:c.14351T>G	XP_006711867.1:p.Leu4784Ter
XM_006711805.2:c.14345T>G	XP_006711868.1:p.Leu4782Ter
XM_006711806.2:c.14339T>G	XP_006711869.1:p.Leu4780Ter
XM_006711807.2:c.14315T>G	XP_006711870.1:p.Leu4772Ter
XM_006711808.2:c.14138T>G	XP_006711871.1:p.Leu4713Ter
XM_006711810.2:c.14282T>G	XP_006711873.1:p.Leu4761Ter
XM_006711802.3:c.14375T>G	XP_006711865.1:p.Leu4792Ter
XM_006711803.3:c.14372T>G	XP_006711866.1:p.Leu4791Ter
XM_006711804.3:c.14351T>G	XP_006711867.1:p.Leu4784Ter
XM_006711805.3:c.14345T>G	XP_006711868.1:p.Leu4782Ter
XM_006711806.3:c.14339T>G	XP_006711869.1:p.Leu4780Ter
XM_006711807.3:c.14315T>G	XP_006711870.1:p.Leu4772Ter
XM_006711808.3:c.14138T>G	XP_006711871.1:p.Leu4713Ter
XM_006711810.3:c.14282T>G	XP_006711873.1:p.Leu4761Ter
XM_017002028.1:c.14354T>G	XP_016857517.1:p.Leu4785Ter
NM_001035.3:c.14321T>G MANE Select	NP_001026.2:p.Leu4774Ter