Canonical Allele Identifier: CA345417722

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237792319T>C , CM000663.2:g.237792319T>C	GRCh38
NC_000001.10:g.237955619T>C , CM000663.1:g.237955619T>C	GRCh37
NC_000001.9:g.236022242T>C	NCBI36
NG_008799.2:g.754918T>C
NG_008799.3:g.755136T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13778T>C MANE Select	NP_001026.2:p.Leu4593Ser
ENST00000366574.7:c.13778T>C MANE Select	ENSP00000355533.2:p.Leu4593Ser
NM_001035.2:c.13778T>C	NP_001026.2:p.Leu4593Ser
ENST00000360064.7:c.13727T>C	ENSP00000353174.7:p.Leu4576Ser
ENST00000366574.6:c.13778T>C	ENSP00000355533.2:p.Leu4593Ser
ENST00000608590.5:n.289T>C
ENST00000609119.2:c.*4870T>C	ENSP00000499659.2:n.*4870T>C
ENST00000659194.2:c.5949T>C
ENST00000659194.3:c.13760T>C	ENSP00000499653.3:p.Leu4587Ser
ENST00000660292.1:c.3831T>C
ENST00000660292.2:c.13799T>C	ENSP00000499787.2:p.Leu4600Ser
XM_006711802.2:c.13832T>C	XP_006711865.1:p.Leu4611Ser
XM_006711802.3:c.13832T>C	XP_006711865.1:p.Leu4611Ser
XM_006711803.2:c.13829T>C	XP_006711866.1:p.Leu4610Ser
XM_006711803.3:c.13829T>C	XP_006711866.1:p.Leu4610Ser
XM_006711804.2:c.13808T>C	XP_006711867.1:p.Leu4603Ser
XM_006711804.3:c.13808T>C	XP_006711867.1:p.Leu4603Ser
XM_006711805.2:c.13802T>C	XP_006711868.1:p.Leu4601Ser
XM_006711805.3:c.13802T>C	XP_006711868.1:p.Leu4601Ser
XM_006711806.2:c.13796T>C	XP_006711869.1:p.Leu4599Ser
XM_006711806.3:c.13796T>C	XP_006711869.1:p.Leu4599Ser
XM_006711807.2:c.13772T>C	XP_006711870.1:p.Leu4591Ser
XM_006711807.3:c.13772T>C	XP_006711870.1:p.Leu4591Ser
XM_006711808.2:c.13595T>C	XP_006711871.1:p.Leu4532Ser
XM_006711808.3:c.13595T>C	XP_006711871.1:p.Leu4532Ser
XM_006711810.2:c.13739T>C	XP_006711873.1:p.Leu4580Ser
XM_006711810.3:c.13739T>C	XP_006711873.1:p.Leu4580Ser
XM_017002028.1:c.13811T>C	XP_016857517.1:p.Leu4604Ser