Canonical Allele Identifier: CA345413268

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947454G>A (hg19) ; chr1:g.237784154G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784154G>A , CM000663.2:g.237784154G>A	GRCh38
NC_000001.10:g.237947454G>A , CM000663.1:g.237947454G>A	GRCh37
NC_000001.9:g.236014077G>A	NCBI36
NG_008799.2:g.746753G>A
NG_008799.3:g.746971G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3534G>A	ENSP00000499659.2:n.*3534G>A
ENST00000659194.3:c.12430G>A	ENSP00000499653.3:p.Val4144Ile
ENST00000660292.2:c.12463G>A	ENSP00000499787.2:p.Val4155Ile
ENST00000659194.2:c.4619G>A
ENST00000366574.7:c.12442G>A MANE Select	ENSP00000355533.2:p.Val4148Ile
ENST00000659194.1:c.4619G>A
ENST00000660292.1:c.2495G>A
ENST00000360064.7:c.12394G>A	ENSP00000353174.7:p.Val4132Ile
ENST00000366574.6:c.12442G>A	ENSP00000355533.2:p.Val4148Ile
ENST00000609119.1:n.3637G>A
NM_001035.2:c.12442G>A	NP_001026.2:p.Val4148Ile
XM_006711802.2:c.12496G>A	XP_006711865.1:p.Val4166Ile
XM_006711803.2:c.12493G>A	XP_006711866.1:p.Val4165Ile
XM_006711804.2:c.12472G>A	XP_006711867.1:p.Val4158Ile
XM_006711805.2:c.12466G>A	XP_006711868.1:p.Val4156Ile
XM_006711806.2:c.12460G>A	XP_006711869.1:p.Val4154Ile
XM_006711807.2:c.12436G>A	XP_006711870.1:p.Val4146Ile
XM_006711808.2:c.12259G>A	XP_006711871.1:p.Val4087Ile
XM_006711810.2:c.12403G>A	XP_006711873.1:p.Val4135Ile
XM_006711802.3:c.12496G>A	XP_006711865.1:p.Val4166Ile
XM_006711803.3:c.12493G>A	XP_006711866.1:p.Val4165Ile
XM_006711804.3:c.12472G>A	XP_006711867.1:p.Val4158Ile
XM_006711805.3:c.12466G>A	XP_006711868.1:p.Val4156Ile
XM_006711806.3:c.12460G>A	XP_006711869.1:p.Val4154Ile
XM_006711807.3:c.12436G>A	XP_006711870.1:p.Val4146Ile
XM_006711808.3:c.12259G>A	XP_006711871.1:p.Val4087Ile
XM_006711810.3:c.12403G>A	XP_006711873.1:p.Val4135Ile
XM_017002028.1:c.12475G>A	XP_016857517.1:p.Val4159Ile
NM_001035.3:c.12442G>A MANE Select	NP_001026.2:p.Val4148Ile