Canonical Allele Identifier: CA345424513

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972316A>T (hg19) ; chr1:g.237809016A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809016A>T , CM000663.2:g.237809016A>T	GRCh38
NC_000001.10:g.237972316A>T , CM000663.1:g.237972316A>T	GRCh37
NC_000001.9:g.236038939A>T	NCBI36
NG_008799.2:g.771615A>T
NG_008799.3:g.771833A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5506A>T	ENSP00000499659.2:n.*5506A>T
ENST00000659194.3:c.14396A>T	ENSP00000499653.3:p.Lys4799Ile
ENST00000660292.2:c.14435A>T	ENSP00000499787.2:p.Lys4812Ile
ENST00000659194.2:c.6585A>T
ENST00000366574.7:c.14414A>T MANE Select	ENSP00000355533.2:p.Lys4805Ile
ENST00000360064.7:c.14363A>T	ENSP00000353174.7:p.Lys4788Ile
ENST00000366574.6:c.14414A>T	ENSP00000355533.2:p.Lys4805Ile
ENST00000608590.5:n.925A>T
NM_001035.2:c.14414A>T	NP_001026.2:p.Lys4805Ile
XM_006711802.2:c.14468A>T	XP_006711865.1:p.Lys4823Ile
XM_006711803.2:c.14465A>T	XP_006711866.1:p.Lys4822Ile
XM_006711804.2:c.14444A>T	XP_006711867.1:p.Lys4815Ile
XM_006711805.2:c.14438A>T	XP_006711868.1:p.Lys4813Ile
XM_006711806.2:c.14432A>T	XP_006711869.1:p.Lys4811Ile
XM_006711807.2:c.14408A>T	XP_006711870.1:p.Lys4803Ile
XM_006711808.2:c.14231A>T	XP_006711871.1:p.Lys4744Ile
XM_006711810.2:c.14375A>T	XP_006711873.1:p.Lys4792Ile
XM_006711802.3:c.14468A>T	XP_006711865.1:p.Lys4823Ile
XM_006711803.3:c.14465A>T	XP_006711866.1:p.Lys4822Ile
XM_006711804.3:c.14444A>T	XP_006711867.1:p.Lys4815Ile
XM_006711805.3:c.14438A>T	XP_006711868.1:p.Lys4813Ile
XM_006711806.3:c.14432A>T	XP_006711869.1:p.Lys4811Ile
XM_006711807.3:c.14408A>T	XP_006711870.1:p.Lys4803Ile
XM_006711808.3:c.14231A>T	XP_006711871.1:p.Lys4744Ile
XM_006711810.3:c.14375A>T	XP_006711873.1:p.Lys4792Ile
XM_017002028.1:c.14447A>T	XP_016857517.1:p.Lys4816Ile
NM_001035.3:c.14414A>T MANE Select	NP_001026.2:p.Lys4805Ile