Canonical Allele Identifier: CA345424475

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972309G>A (hg19) ; chr1:g.237809009G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809009G>A , CM000663.2:g.237809009G>A	GRCh38
NC_000001.10:g.237972309G>A , CM000663.1:g.237972309G>A	GRCh37
NC_000001.9:g.236038932G>A	NCBI36
NG_008799.2:g.771608G>A
NG_008799.3:g.771826G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5499G>A	ENSP00000499659.2:n.*5499G>A
ENST00000659194.3:c.14389G>A	ENSP00000499653.3:p.Asp4797Asn
ENST00000660292.2:c.14428G>A	ENSP00000499787.2:p.Asp4810Asn
ENST00000659194.2:c.6578G>A
ENST00000366574.7:c.14407G>A MANE Select	ENSP00000355533.2:p.Asp4803Asn
ENST00000360064.7:c.14356G>A	ENSP00000353174.7:p.Asp4786Asn
ENST00000366574.6:c.14407G>A	ENSP00000355533.2:p.Asp4803Asn
ENST00000608590.5:n.918G>A
NM_001035.2:c.14407G>A	NP_001026.2:p.Asp4803Asn
XM_006711802.2:c.14461G>A	XP_006711865.1:p.Asp4821Asn
XM_006711803.2:c.14458G>A	XP_006711866.1:p.Asp4820Asn
XM_006711804.2:c.14437G>A	XP_006711867.1:p.Asp4813Asn
XM_006711805.2:c.14431G>A	XP_006711868.1:p.Asp4811Asn
XM_006711806.2:c.14425G>A	XP_006711869.1:p.Asp4809Asn
XM_006711807.2:c.14401G>A	XP_006711870.1:p.Asp4801Asn
XM_006711808.2:c.14224G>A	XP_006711871.1:p.Asp4742Asn
XM_006711810.2:c.14368G>A	XP_006711873.1:p.Asp4790Asn
XM_006711802.3:c.14461G>A	XP_006711865.1:p.Asp4821Asn
XM_006711803.3:c.14458G>A	XP_006711866.1:p.Asp4820Asn
XM_006711804.3:c.14437G>A	XP_006711867.1:p.Asp4813Asn
XM_006711805.3:c.14431G>A	XP_006711868.1:p.Asp4811Asn
XM_006711806.3:c.14425G>A	XP_006711869.1:p.Asp4809Asn
XM_006711807.3:c.14401G>A	XP_006711870.1:p.Asp4801Asn
XM_006711808.3:c.14224G>A	XP_006711871.1:p.Asp4742Asn
XM_006711810.3:c.14368G>A	XP_006711873.1:p.Asp4790Asn
XM_017002028.1:c.14440G>A	XP_016857517.1:p.Asp4814Asn
NM_001035.3:c.14407G>A MANE Select	NP_001026.2:p.Asp4803Asn