Canonical Allele Identifier: CA345406615

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237934115G>C (hg19) ; chr1:g.237770815G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237770815G>C , CM000663.2:g.237770815G>C	GRCh38
NC_000001.10:g.237934115G>C , CM000663.1:g.237934115G>C	GRCh37
NC_000001.9:g.236000738G>C	NCBI36
NG_008799.2:g.733414G>C
NG_008799.3:g.733632G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2577G>C	ENSP00000499659.2:n.*2577G>C
ENST00000659194.3:c.11473G>C	ENSP00000499653.3:p.Val3825Leu
ENST00000660292.2:c.11506G>C	ENSP00000499787.2:p.Val3836Leu
ENST00000659194.2:c.3662G>C
ENST00000366574.7:c.11485G>C MANE Select	ENSP00000355533.2:p.Val3829Leu
ENST00000659194.1:c.3662G>C
ENST00000660292.1:c.1538G>C
ENST00000360064.7:c.11437G>C	ENSP00000353174.7:p.Val3813Leu
ENST00000366574.6:c.11485G>C	ENSP00000355533.2:p.Val3829Leu
ENST00000609119.1:n.2680G>C
NM_001035.2:c.11485G>C	NP_001026.2:p.Val3829Leu
XM_006711802.2:c.11539G>C	XP_006711865.1:p.Val3847Leu
XM_006711803.2:c.11536G>C	XP_006711866.1:p.Val3846Leu
XM_006711804.2:c.11515G>C	XP_006711867.1:p.Val3839Leu
XM_006711805.2:c.11509G>C	XP_006711868.1:p.Val3837Leu
XM_006711806.2:c.11503G>C	XP_006711869.1:p.Val3835Leu
XM_006711807.2:c.11479G>C	XP_006711870.1:p.Val3827Leu
XM_006711808.2:c.11302G>C	XP_006711871.1:p.Val3768Leu
XM_006711810.2:c.11446G>C	XP_006711873.1:p.Val3816Leu
XM_006711802.3:c.11539G>C	XP_006711865.1:p.Val3847Leu
XM_006711803.3:c.11536G>C	XP_006711866.1:p.Val3846Leu
XM_006711804.3:c.11515G>C	XP_006711867.1:p.Val3839Leu
XM_006711805.3:c.11509G>C	XP_006711868.1:p.Val3837Leu
XM_006711806.3:c.11503G>C	XP_006711869.1:p.Val3835Leu
XM_006711807.3:c.11479G>C	XP_006711870.1:p.Val3827Leu
XM_006711808.3:c.11302G>C	XP_006711871.1:p.Val3768Leu
XM_006711810.3:c.11446G>C	XP_006711873.1:p.Val3816Leu
XM_017002028.1:c.11518G>C	XP_016857517.1:p.Val3840Leu
NM_001035.3:c.11485G>C MANE Select	NP_001026.2:p.Val3829Leu