Canonical Allele Identifier: CA345424285

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972267T>C (hg19) ; chr1:g.237808967T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808967T>C , CM000663.2:g.237808967T>C	GRCh38
NC_000001.10:g.237972267T>C , CM000663.1:g.237972267T>C	GRCh37
NC_000001.9:g.236038890T>C	NCBI36
NG_008799.2:g.771566T>C
NG_008799.3:g.771784T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5457T>C	ENSP00000499659.2:n.*5457T>C
ENST00000659194.3:c.14347T>C	ENSP00000499653.3:p.Phe4783Leu
ENST00000660292.2:c.14386T>C	ENSP00000499787.2:p.Phe4796Leu
ENST00000659194.2:c.6536T>C
ENST00000366574.7:c.14365T>C MANE Select	ENSP00000355533.2:p.Phe4789Leu
ENST00000360064.7:c.14314T>C	ENSP00000353174.7:p.Phe4772Leu
ENST00000366574.6:c.14365T>C	ENSP00000355533.2:p.Phe4789Leu
ENST00000608590.5:n.876T>C
NM_001035.2:c.14365T>C	NP_001026.2:p.Phe4789Leu
XM_006711802.2:c.14419T>C	XP_006711865.1:p.Phe4807Leu
XM_006711803.2:c.14416T>C	XP_006711866.1:p.Phe4806Leu
XM_006711804.2:c.14395T>C	XP_006711867.1:p.Phe4799Leu
XM_006711805.2:c.14389T>C	XP_006711868.1:p.Phe4797Leu
XM_006711806.2:c.14383T>C	XP_006711869.1:p.Phe4795Leu
XM_006711807.2:c.14359T>C	XP_006711870.1:p.Phe4787Leu
XM_006711808.2:c.14182T>C	XP_006711871.1:p.Phe4728Leu
XM_006711810.2:c.14326T>C	XP_006711873.1:p.Phe4776Leu
XM_006711802.3:c.14419T>C	XP_006711865.1:p.Phe4807Leu
XM_006711803.3:c.14416T>C	XP_006711866.1:p.Phe4806Leu
XM_006711804.3:c.14395T>C	XP_006711867.1:p.Phe4799Leu
XM_006711805.3:c.14389T>C	XP_006711868.1:p.Phe4797Leu
XM_006711806.3:c.14383T>C	XP_006711869.1:p.Phe4795Leu
XM_006711807.3:c.14359T>C	XP_006711870.1:p.Phe4787Leu
XM_006711808.3:c.14182T>C	XP_006711871.1:p.Phe4728Leu
XM_006711810.3:c.14326T>C	XP_006711873.1:p.Phe4776Leu
XM_017002028.1:c.14398T>C	XP_016857517.1:p.Phe4800Leu
NM_001035.3:c.14365T>C MANE Select	NP_001026.2:p.Phe4789Leu