Canonical Allele Identifier: CA345413279

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947455T>C (hg19) ; chr1:g.237784155T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784155T>C , CM000663.2:g.237784155T>C	GRCh38
NC_000001.10:g.237947455T>C , CM000663.1:g.237947455T>C	GRCh37
NC_000001.9:g.236014078T>C	NCBI36
NG_008799.2:g.746754T>C
NG_008799.3:g.746972T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3535T>C	ENSP00000499659.2:n.*3535T>C
ENST00000659194.3:c.12431T>C	ENSP00000499653.3:p.Val4144Ala
ENST00000660292.2:c.12464T>C	ENSP00000499787.2:p.Val4155Ala
ENST00000659194.2:c.4620T>C
ENST00000366574.7:c.12443T>C MANE Select	ENSP00000355533.2:p.Val4148Ala
ENST00000659194.1:c.4620T>C
ENST00000660292.1:c.2496T>C
ENST00000360064.7:c.12395T>C	ENSP00000353174.7:p.Val4132Ala
ENST00000366574.6:c.12443T>C	ENSP00000355533.2:p.Val4148Ala
ENST00000609119.1:n.3638T>C
NM_001035.2:c.12443T>C	NP_001026.2:p.Val4148Ala
XM_006711802.2:c.12497T>C	XP_006711865.1:p.Val4166Ala
XM_006711803.2:c.12494T>C	XP_006711866.1:p.Val4165Ala
XM_006711804.2:c.12473T>C	XP_006711867.1:p.Val4158Ala
XM_006711805.2:c.12467T>C	XP_006711868.1:p.Val4156Ala
XM_006711806.2:c.12461T>C	XP_006711869.1:p.Val4154Ala
XM_006711807.2:c.12437T>C	XP_006711870.1:p.Val4146Ala
XM_006711808.2:c.12260T>C	XP_006711871.1:p.Val4087Ala
XM_006711810.2:c.12404T>C	XP_006711873.1:p.Val4135Ala
XM_006711802.3:c.12497T>C	XP_006711865.1:p.Val4166Ala
XM_006711803.3:c.12494T>C	XP_006711866.1:p.Val4165Ala
XM_006711804.3:c.12473T>C	XP_006711867.1:p.Val4158Ala
XM_006711805.3:c.12467T>C	XP_006711868.1:p.Val4156Ala
XM_006711806.3:c.12461T>C	XP_006711869.1:p.Val4154Ala
XM_006711807.3:c.12437T>C	XP_006711870.1:p.Val4146Ala
XM_006711808.3:c.12260T>C	XP_006711871.1:p.Val4087Ala
XM_006711810.3:c.12404T>C	XP_006711873.1:p.Val4135Ala
XM_017002028.1:c.12476T>C	XP_016857517.1:p.Val4159Ala
NM_001035.3:c.12443T>C MANE Select	NP_001026.2:p.Val4148Ala