Canonical Allele Identifier: CA345424368

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972284T>G (hg19) ; chr1:g.237808984T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808984T>G , CM000663.2:g.237808984T>G	GRCh38
NC_000001.10:g.237972284T>G , CM000663.1:g.237972284T>G	GRCh37
NC_000001.9:g.236038907T>G	NCBI36
NG_008799.2:g.771583T>G
NG_008799.3:g.771801T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5474T>G	ENSP00000499659.2:n.*5474T>G
ENST00000659194.3:c.14364T>G	ENSP00000499653.3:p.Asn4788Lys
ENST00000660292.2:c.14403T>G	ENSP00000499787.2:p.Asn4801Lys
ENST00000659194.2:c.6553T>G
ENST00000366574.7:c.14382T>G MANE Select	ENSP00000355533.2:p.Asn4794Lys
ENST00000360064.7:c.14331T>G	ENSP00000353174.7:p.Asn4777Lys
ENST00000366574.6:c.14382T>G	ENSP00000355533.2:p.Asn4794Lys
ENST00000608590.5:n.893T>G
NM_001035.2:c.14382T>G	NP_001026.2:p.Asn4794Lys
XM_006711802.2:c.14436T>G	XP_006711865.1:p.Asn4812Lys
XM_006711803.2:c.14433T>G	XP_006711866.1:p.Asn4811Lys
XM_006711804.2:c.14412T>G	XP_006711867.1:p.Asn4804Lys
XM_006711805.2:c.14406T>G	XP_006711868.1:p.Asn4802Lys
XM_006711806.2:c.14400T>G	XP_006711869.1:p.Asn4800Lys
XM_006711807.2:c.14376T>G	XP_006711870.1:p.Asn4792Lys
XM_006711808.2:c.14199T>G	XP_006711871.1:p.Asn4733Lys
XM_006711810.2:c.14343T>G	XP_006711873.1:p.Asn4781Lys
XM_006711802.3:c.14436T>G	XP_006711865.1:p.Asn4812Lys
XM_006711803.3:c.14433T>G	XP_006711866.1:p.Asn4811Lys
XM_006711804.3:c.14412T>G	XP_006711867.1:p.Asn4804Lys
XM_006711805.3:c.14406T>G	XP_006711868.1:p.Asn4802Lys
XM_006711806.3:c.14400T>G	XP_006711869.1:p.Asn4800Lys
XM_006711807.3:c.14376T>G	XP_006711870.1:p.Asn4792Lys
XM_006711808.3:c.14199T>G	XP_006711871.1:p.Asn4733Lys
XM_006711810.3:c.14343T>G	XP_006711873.1:p.Asn4781Lys
XM_017002028.1:c.14415T>G	XP_016857517.1:p.Asn4805Lys
NM_001035.3:c.14382T>G MANE Select	NP_001026.2:p.Asn4794Lys