Canonical Allele Identifier: CA007966

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237791493A>G , CM000663.2:g.237791493A>G	GRCh38
NC_000001.10:g.237954793A>G , CM000663.1:g.237954793A>G	GRCh37
NC_000001.9:g.236021416A>G	NCBI36
NG_008799.2:g.754092A>G
NG_008799.3:g.754310A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13541A>G MANE Select	NP_001026.2:p.Asn4514Ser
ENST00000366574.7:c.13541A>G MANE Select	ENSP00000355533.2:p.Asn4514Ser
NM_001035.2:c.13541A>G	NP_001026.2:p.Asn4514Ser
ENST00000360064.7:c.13490A>G	ENSP00000353174.7:p.Asn4497Ser
ENST00000366574.6:c.13541A>G	ENSP00000355533.2:p.Asn4514Ser
ENST00000609119.2:c.*4633A>G	ENSP00000499659.2:n.*4633A>G
ENST00000659194.2:c.5712A>G
ENST00000659194.3:c.13523A>G	ENSP00000499653.3:p.Asn4508Ser
ENST00000660292.1:c.3594A>G
ENST00000660292.2:c.13562A>G	ENSP00000499787.2:p.Asn4521Ser
XM_006711802.2:c.13595A>G	XP_006711865.1:p.Asn4532Ser
XM_006711802.3:c.13595A>G	XP_006711865.1:p.Asn4532Ser
XM_006711803.2:c.13592A>G	XP_006711866.1:p.Asn4531Ser
XM_006711803.3:c.13592A>G	XP_006711866.1:p.Asn4531Ser
XM_006711804.2:c.13571A>G	XP_006711867.1:p.Asn4524Ser
XM_006711804.3:c.13571A>G	XP_006711867.1:p.Asn4524Ser
XM_006711805.2:c.13565A>G	XP_006711868.1:p.Asn4522Ser
XM_006711805.3:c.13565A>G	XP_006711868.1:p.Asn4522Ser
XM_006711806.2:c.13559A>G	XP_006711869.1:p.Asn4520Ser
XM_006711806.3:c.13559A>G	XP_006711869.1:p.Asn4520Ser
XM_006711807.2:c.13535A>G	XP_006711870.1:p.Asn4512Ser
XM_006711807.3:c.13535A>G	XP_006711870.1:p.Asn4512Ser
XM_006711808.2:c.13358A>G	XP_006711871.1:p.Asn4453Ser
XM_006711808.3:c.13358A>G	XP_006711871.1:p.Asn4453Ser
XM_006711810.2:c.13502A>G	XP_006711873.1:p.Asn4501Ser
XM_006711810.3:c.13502A>G	XP_006711873.1:p.Asn4501Ser
XM_017002028.1:c.13574A>G	XP_016857517.1:p.Asn4525Ser