Canonical Allele Identifier: CA345424380

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972287A>T (hg19) ; chr1:g.237808987A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808987A>T , CM000663.2:g.237808987A>T	GRCh38
NC_000001.10:g.237972287A>T , CM000663.1:g.237972287A>T	GRCh37
NC_000001.9:g.236038910A>T	NCBI36
NG_008799.2:g.771586A>T
NG_008799.3:g.771804A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5477A>T	ENSP00000499659.2:n.*5477A>T
ENST00000659194.3:c.14367A>T	ENSP00000499653.3:p.Lys4789Asn
ENST00000660292.2:c.14406A>T	ENSP00000499787.2:p.Lys4802Asn
ENST00000659194.2:c.6556A>T
ENST00000366574.7:c.14385A>T MANE Select	ENSP00000355533.2:p.Lys4795Asn
ENST00000360064.7:c.14334A>T	ENSP00000353174.7:p.Lys4778Asn
ENST00000366574.6:c.14385A>T	ENSP00000355533.2:p.Lys4795Asn
ENST00000608590.5:n.896A>T
NM_001035.2:c.14385A>T	NP_001026.2:p.Lys4795Asn
XM_006711802.2:c.14439A>T	XP_006711865.1:p.Lys4813Asn
XM_006711803.2:c.14436A>T	XP_006711866.1:p.Lys4812Asn
XM_006711804.2:c.14415A>T	XP_006711867.1:p.Lys4805Asn
XM_006711805.2:c.14409A>T	XP_006711868.1:p.Lys4803Asn
XM_006711806.2:c.14403A>T	XP_006711869.1:p.Lys4801Asn
XM_006711807.2:c.14379A>T	XP_006711870.1:p.Lys4793Asn
XM_006711808.2:c.14202A>T	XP_006711871.1:p.Lys4734Asn
XM_006711810.2:c.14346A>T	XP_006711873.1:p.Lys4782Asn
XM_006711802.3:c.14439A>T	XP_006711865.1:p.Lys4813Asn
XM_006711803.3:c.14436A>T	XP_006711866.1:p.Lys4812Asn
XM_006711804.3:c.14415A>T	XP_006711867.1:p.Lys4805Asn
XM_006711805.3:c.14409A>T	XP_006711868.1:p.Lys4803Asn
XM_006711806.3:c.14403A>T	XP_006711869.1:p.Lys4801Asn
XM_006711807.3:c.14379A>T	XP_006711870.1:p.Lys4793Asn
XM_006711808.3:c.14202A>T	XP_006711871.1:p.Lys4734Asn
XM_006711810.3:c.14346A>T	XP_006711873.1:p.Lys4782Asn
XM_017002028.1:c.14418A>T	XP_016857517.1:p.Lys4806Asn
NM_001035.3:c.14385A>T MANE Select	NP_001026.2:p.Lys4795Asn