Canonical Allele Identifier: CA345424311

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972273A>T (hg19) ; chr1:g.237808973A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808973A>T , CM000663.2:g.237808973A>T	GRCh38
NC_000001.10:g.237972273A>T , CM000663.1:g.237972273A>T	GRCh37
NC_000001.9:g.236038896A>T	NCBI36
NG_008799.2:g.771572A>T
NG_008799.3:g.771790A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5463A>T	ENSP00000499659.2:n.*5463A>T
ENST00000659194.3:c.14353A>T	ENSP00000499653.3:p.Lys4785Ter
ENST00000660292.2:c.14392A>T	ENSP00000499787.2:p.Lys4798Ter
ENST00000659194.2:c.6542A>T
ENST00000366574.7:c.14371A>T MANE Select	ENSP00000355533.2:p.Lys4791Ter
ENST00000360064.7:c.14320A>T	ENSP00000353174.7:p.Lys4774Ter
ENST00000366574.6:c.14371A>T	ENSP00000355533.2:p.Lys4791Ter
ENST00000608590.5:n.882A>T
NM_001035.2:c.14371A>T	NP_001026.2:p.Lys4791Ter
XM_006711802.2:c.14425A>T	XP_006711865.1:p.Lys4809Ter
XM_006711803.2:c.14422A>T	XP_006711866.1:p.Lys4808Ter
XM_006711804.2:c.14401A>T	XP_006711867.1:p.Lys4801Ter
XM_006711805.2:c.14395A>T	XP_006711868.1:p.Lys4799Ter
XM_006711806.2:c.14389A>T	XP_006711869.1:p.Lys4797Ter
XM_006711807.2:c.14365A>T	XP_006711870.1:p.Lys4789Ter
XM_006711808.2:c.14188A>T	XP_006711871.1:p.Lys4730Ter
XM_006711810.2:c.14332A>T	XP_006711873.1:p.Lys4778Ter
XM_006711802.3:c.14425A>T	XP_006711865.1:p.Lys4809Ter
XM_006711803.3:c.14422A>T	XP_006711866.1:p.Lys4808Ter
XM_006711804.3:c.14401A>T	XP_006711867.1:p.Lys4801Ter
XM_006711805.3:c.14395A>T	XP_006711868.1:p.Lys4799Ter
XM_006711806.3:c.14389A>T	XP_006711869.1:p.Lys4797Ter
XM_006711807.3:c.14365A>T	XP_006711870.1:p.Lys4789Ter
XM_006711808.3:c.14188A>T	XP_006711871.1:p.Lys4730Ter
XM_006711810.3:c.14332A>T	XP_006711873.1:p.Lys4778Ter
XM_017002028.1:c.14404A>T	XP_016857517.1:p.Lys4802Ter
NM_001035.3:c.14371A>T MANE Select	NP_001026.2:p.Lys4791Ter