Canonical Allele Identifier: CA16610067

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237793988T>A , CM000663.2:g.237793988T>A	GRCh38
NC_000001.10:g.237957288T>A , CM000663.1:g.237957288T>A	GRCh37
NC_000001.9:g.236023911T>A	NCBI36
NG_008799.2:g.756587T>A
NG_008799.3:g.756805T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*4996T>A	ENSP00000499659.2:n.*4996T>A
ENST00000659194.3:c.13886T>A	ENSP00000499653.3:p.Ile4629Asn
ENST00000660292.2:c.13925T>A	ENSP00000499787.2:p.Ile4642Asn
ENST00000659194.2:c.6075T>A
ENST00000366574.7:c.13904T>A MANE Select	ENSP00000355533.2:p.Ile4635Asn
ENST00000660292.1:c.3957T>A
ENST00000360064.7:c.13853T>A	ENSP00000353174.7:p.Ile4618Asn
ENST00000366574.6:c.13904T>A	ENSP00000355533.2:p.Ile4635Asn
ENST00000608590.5:n.415T>A
NM_001035.2:c.13904T>A	NP_001026.2:p.Ile4635Asn
XM_006711802.2:c.13958T>A	XP_006711865.1:p.Ile4653Asn
XM_006711803.2:c.13955T>A	XP_006711866.1:p.Ile4652Asn
XM_006711804.2:c.13934T>A	XP_006711867.1:p.Ile4645Asn
XM_006711805.2:c.13928T>A	XP_006711868.1:p.Ile4643Asn
XM_006711806.2:c.13922T>A	XP_006711869.1:p.Ile4641Asn
XM_006711807.2:c.13898T>A	XP_006711870.1:p.Ile4633Asn
XM_006711808.2:c.13721T>A	XP_006711871.1:p.Ile4574Asn
XM_006711810.2:c.13865T>A	XP_006711873.1:p.Ile4622Asn
XM_006711802.3:c.13958T>A	XP_006711865.1:p.Ile4653Asn
XM_006711803.3:c.13955T>A	XP_006711866.1:p.Ile4652Asn
XM_006711804.3:c.13934T>A	XP_006711867.1:p.Ile4645Asn
XM_006711805.3:c.13928T>A	XP_006711868.1:p.Ile4643Asn
XM_006711806.3:c.13922T>A	XP_006711869.1:p.Ile4641Asn
XM_006711807.3:c.13898T>A	XP_006711870.1:p.Ile4633Asn
XM_006711808.3:c.13721T>A	XP_006711871.1:p.Ile4574Asn
XM_006711810.3:c.13865T>A	XP_006711873.1:p.Ile4622Asn
XM_017002028.1:c.13937T>A	XP_016857517.1:p.Ile4646Asn
NM_001035.3:c.13904T>A MANE Select	NP_001026.2:p.Ile4635Asn