Canonical Allele Identifier: CA424051720

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972251G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808951G>A , CM000663.2:g.237808951G>A	GRCh38
NC_000001.10:g.237972251G>A , CM000663.1:g.237972251G>A	GRCh37
NC_000001.9:g.236038874G>A	NCBI36
NG_008799.2:g.771550G>A
NG_008799.3:g.771768G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5441G>A	ENSP00000499659.2:n.*5441G>A
ENST00000659194.3:c.14331G>A	ENSP00000499653.3:p.Val4777=
ENST00000660292.2:c.14370G>A	ENSP00000499787.2:p.Val4790=
ENST00000659194.2:c.6520G>A
ENST00000366574.7:c.14349G>A MANE Select	ENSP00000355533.2:p.Val4783=
ENST00000360064.7:c.14298G>A	ENSP00000353174.7:p.Val4766=
ENST00000366574.6:c.14349G>A	ENSP00000355533.2:p.Val4783=
ENST00000608590.5:n.860G>A
NM_001035.2:c.14349G>A	NP_001026.2:p.Val4783=
XM_006711802.2:c.14403G>A	XP_006711865.1:p.Val4801=
XM_006711803.2:c.14400G>A	XP_006711866.1:p.Val4800=
XM_006711804.2:c.14379G>A	XP_006711867.1:p.Val4793=
XM_006711805.2:c.14373G>A	XP_006711868.1:p.Val4791=
XM_006711806.2:c.14367G>A	XP_006711869.1:p.Val4789=
XM_006711807.2:c.14343G>A	XP_006711870.1:p.Val4781=
XM_006711808.2:c.14166G>A	XP_006711871.1:p.Val4722=
XM_006711810.2:c.14310G>A	XP_006711873.1:p.Val4770=
XM_006711802.3:c.14403G>A	XP_006711865.1:p.Val4801=
XM_006711803.3:c.14400G>A	XP_006711866.1:p.Val4800=
XM_006711804.3:c.14379G>A	XP_006711867.1:p.Val4793=
XM_006711805.3:c.14373G>A	XP_006711868.1:p.Val4791=
XM_006711806.3:c.14367G>A	XP_006711869.1:p.Val4789=
XM_006711807.3:c.14343G>A	XP_006711870.1:p.Val4781=
XM_006711808.3:c.14166G>A	XP_006711871.1:p.Val4722=
XM_006711810.3:c.14310G>A	XP_006711873.1:p.Val4770=
XM_017002028.1:c.14382G>A	XP_016857517.1:p.Val4794=
NM_001035.3:c.14349G>A MANE Select	NP_001026.2:p.Val4783=