Canonical Allele Identifier: CA345424096

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972228G>C (hg19) ; chr1:g.237808928G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808928G>C , CM000663.2:g.237808928G>C	GRCh38
NC_000001.10:g.237972228G>C , CM000663.1:g.237972228G>C	GRCh37
NC_000001.9:g.236038851G>C	NCBI36
NG_008799.2:g.771527G>C
NG_008799.3:g.771745G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5418G>C	ENSP00000499659.2:n.*5418G>C
ENST00000659194.3:c.14308G>C	ENSP00000499653.3:p.Val4770Leu
ENST00000660292.2:c.14347G>C	ENSP00000499787.2:p.Val4783Leu
ENST00000659194.2:c.6497G>C
ENST00000366574.7:c.14326G>C MANE Select	ENSP00000355533.2:p.Val4776Leu
ENST00000360064.7:c.14275G>C	ENSP00000353174.7:p.Val4759Leu
ENST00000366574.6:c.14326G>C	ENSP00000355533.2:p.Val4776Leu
ENST00000608590.5:n.837G>C
NM_001035.2:c.14326G>C	NP_001026.2:p.Val4776Leu
XM_006711802.2:c.14380G>C	XP_006711865.1:p.Val4794Leu
XM_006711803.2:c.14377G>C	XP_006711866.1:p.Val4793Leu
XM_006711804.2:c.14356G>C	XP_006711867.1:p.Val4786Leu
XM_006711805.2:c.14350G>C	XP_006711868.1:p.Val4784Leu
XM_006711806.2:c.14344G>C	XP_006711869.1:p.Val4782Leu
XM_006711807.2:c.14320G>C	XP_006711870.1:p.Val4774Leu
XM_006711808.2:c.14143G>C	XP_006711871.1:p.Val4715Leu
XM_006711810.2:c.14287G>C	XP_006711873.1:p.Val4763Leu
XM_006711802.3:c.14380G>C	XP_006711865.1:p.Val4794Leu
XM_006711803.3:c.14377G>C	XP_006711866.1:p.Val4793Leu
XM_006711804.3:c.14356G>C	XP_006711867.1:p.Val4786Leu
XM_006711805.3:c.14350G>C	XP_006711868.1:p.Val4784Leu
XM_006711806.3:c.14344G>C	XP_006711869.1:p.Val4782Leu
XM_006711807.3:c.14320G>C	XP_006711870.1:p.Val4774Leu
XM_006711808.3:c.14143G>C	XP_006711871.1:p.Val4715Leu
XM_006711810.3:c.14287G>C	XP_006711873.1:p.Val4763Leu
XM_017002028.1:c.14359G>C	XP_016857517.1:p.Val4787Leu
NM_001035.3:c.14326G>C MANE Select	NP_001026.2:p.Val4776Leu