Canonical Allele Identifier: CA345413521

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947527T>C (hg19) ; chr1:g.237784227T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784227T>C , CM000663.2:g.237784227T>C	GRCh38
NC_000001.10:g.237947527T>C , CM000663.1:g.237947527T>C	GRCh37
NC_000001.9:g.236014150T>C	NCBI36
NG_008799.2:g.746826T>C
NG_008799.3:g.747044T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3607T>C	ENSP00000499659.2:n.*3607T>C
ENST00000659194.3:c.12503T>C	ENSP00000499653.3:p.Phe4168Ser
ENST00000660292.2:c.12536T>C	ENSP00000499787.2:p.Phe4179Ser
ENST00000659194.2:c.4692T>C
ENST00000366574.7:c.12515T>C MANE Select	ENSP00000355533.2:p.Phe4172Ser
ENST00000659194.1:c.4692T>C
ENST00000660292.1:c.2568T>C
ENST00000360064.7:c.12467T>C	ENSP00000353174.7:p.Phe4156Ser
ENST00000366574.6:c.12515T>C	ENSP00000355533.2:p.Phe4172Ser
ENST00000609119.1:n.3710T>C
NM_001035.2:c.12515T>C	NP_001026.2:p.Phe4172Ser
XM_006711802.2:c.12569T>C	XP_006711865.1:p.Phe4190Ser
XM_006711803.2:c.12566T>C	XP_006711866.1:p.Phe4189Ser
XM_006711804.2:c.12545T>C	XP_006711867.1:p.Phe4182Ser
XM_006711805.2:c.12539T>C	XP_006711868.1:p.Phe4180Ser
XM_006711806.2:c.12533T>C	XP_006711869.1:p.Phe4178Ser
XM_006711807.2:c.12509T>C	XP_006711870.1:p.Phe4170Ser
XM_006711808.2:c.12332T>C	XP_006711871.1:p.Phe4111Ser
XM_006711810.2:c.12476T>C	XP_006711873.1:p.Phe4159Ser
XM_006711802.3:c.12569T>C	XP_006711865.1:p.Phe4190Ser
XM_006711803.3:c.12566T>C	XP_006711866.1:p.Phe4189Ser
XM_006711804.3:c.12545T>C	XP_006711867.1:p.Phe4182Ser
XM_006711805.3:c.12539T>C	XP_006711868.1:p.Phe4180Ser
XM_006711806.3:c.12533T>C	XP_006711869.1:p.Phe4178Ser
XM_006711807.3:c.12509T>C	XP_006711870.1:p.Phe4170Ser
XM_006711808.3:c.12332T>C	XP_006711871.1:p.Phe4111Ser
XM_006711810.3:c.12476T>C	XP_006711873.1:p.Phe4159Ser
XM_017002028.1:c.12548T>C	XP_016857517.1:p.Phe4183Ser
NM_001035.3:c.12515T>C MANE Select	NP_001026.2:p.Phe4172Ser