Canonical Allele Identifier: CA345424459

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972303A>T (hg19) ; chr1:g.237809003A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809003A>T , CM000663.2:g.237809003A>T	GRCh38
NC_000001.10:g.237972303A>T , CM000663.1:g.237972303A>T	GRCh37
NC_000001.9:g.236038926A>T	NCBI36
NG_008799.2:g.771602A>T
NG_008799.3:g.771820A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5493A>T	ENSP00000499659.2:n.*5493A>T
ENST00000659194.3:c.14383A>T	ENSP00000499653.3:p.Thr4795Ser
ENST00000660292.2:c.14422A>T	ENSP00000499787.2:p.Thr4808Ser
ENST00000659194.2:c.6572A>T
ENST00000366574.7:c.14401A>T MANE Select	ENSP00000355533.2:p.Thr4801Ser
ENST00000360064.7:c.14350A>T	ENSP00000353174.7:p.Thr4784Ser
ENST00000366574.6:c.14401A>T	ENSP00000355533.2:p.Thr4801Ser
ENST00000608590.5:n.912A>T
NM_001035.2:c.14401A>T	NP_001026.2:p.Thr4801Ser
XM_006711802.2:c.14455A>T	XP_006711865.1:p.Thr4819Ser
XM_006711803.2:c.14452A>T	XP_006711866.1:p.Thr4818Ser
XM_006711804.2:c.14431A>T	XP_006711867.1:p.Thr4811Ser
XM_006711805.2:c.14425A>T	XP_006711868.1:p.Thr4809Ser
XM_006711806.2:c.14419A>T	XP_006711869.1:p.Thr4807Ser
XM_006711807.2:c.14395A>T	XP_006711870.1:p.Thr4799Ser
XM_006711808.2:c.14218A>T	XP_006711871.1:p.Thr4740Ser
XM_006711810.2:c.14362A>T	XP_006711873.1:p.Thr4788Ser
XM_006711802.3:c.14455A>T	XP_006711865.1:p.Thr4819Ser
XM_006711803.3:c.14452A>T	XP_006711866.1:p.Thr4818Ser
XM_006711804.3:c.14431A>T	XP_006711867.1:p.Thr4811Ser
XM_006711805.3:c.14425A>T	XP_006711868.1:p.Thr4809Ser
XM_006711806.3:c.14419A>T	XP_006711869.1:p.Thr4807Ser
XM_006711807.3:c.14395A>T	XP_006711870.1:p.Thr4799Ser
XM_006711808.3:c.14218A>T	XP_006711871.1:p.Thr4740Ser
XM_006711810.3:c.14362A>T	XP_006711873.1:p.Thr4788Ser
XM_017002028.1:c.14434A>T	XP_016857517.1:p.Thr4812Ser
NM_001035.3:c.14401A>T MANE Select	NP_001026.2:p.Thr4801Ser