Canonical Allele Identifier: CA345413237

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947445A>C (hg19) ; chr1:g.237784145A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784145A>C , CM000663.2:g.237784145A>C	GRCh38
NC_000001.10:g.237947445A>C , CM000663.1:g.237947445A>C	GRCh37
NC_000001.9:g.236014068A>C	NCBI36
NG_008799.2:g.746744A>C
NG_008799.3:g.746962A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3525A>C	ENSP00000499659.2:n.*3525A>C
ENST00000659194.3:c.12421A>C	ENSP00000499653.3:p.Ile4141Leu
ENST00000660292.2:c.12454A>C	ENSP00000499787.2:p.Ile4152Leu
ENST00000659194.2:c.4610A>C
ENST00000366574.7:c.12433A>C MANE Select	ENSP00000355533.2:p.Ile4145Leu
ENST00000659194.1:c.4610A>C
ENST00000660292.1:c.2486A>C
ENST00000360064.7:c.12385A>C	ENSP00000353174.7:p.Ile4129Leu
ENST00000366574.6:c.12433A>C	ENSP00000355533.2:p.Ile4145Leu
ENST00000609119.1:n.3628A>C
NM_001035.2:c.12433A>C	NP_001026.2:p.Ile4145Leu
XM_006711802.2:c.12487A>C	XP_006711865.1:p.Ile4163Leu
XM_006711803.2:c.12484A>C	XP_006711866.1:p.Ile4162Leu
XM_006711804.2:c.12463A>C	XP_006711867.1:p.Ile4155Leu
XM_006711805.2:c.12457A>C	XP_006711868.1:p.Ile4153Leu
XM_006711806.2:c.12451A>C	XP_006711869.1:p.Ile4151Leu
XM_006711807.2:c.12427A>C	XP_006711870.1:p.Ile4143Leu
XM_006711808.2:c.12250A>C	XP_006711871.1:p.Ile4084Leu
XM_006711810.2:c.12394A>C	XP_006711873.1:p.Ile4132Leu
XM_006711802.3:c.12487A>C	XP_006711865.1:p.Ile4163Leu
XM_006711803.3:c.12484A>C	XP_006711866.1:p.Ile4162Leu
XM_006711804.3:c.12463A>C	XP_006711867.1:p.Ile4155Leu
XM_006711805.3:c.12457A>C	XP_006711868.1:p.Ile4153Leu
XM_006711806.3:c.12451A>C	XP_006711869.1:p.Ile4151Leu
XM_006711807.3:c.12427A>C	XP_006711870.1:p.Ile4143Leu
XM_006711808.3:c.12250A>C	XP_006711871.1:p.Ile4084Leu
XM_006711810.3:c.12394A>C	XP_006711873.1:p.Ile4132Leu
XM_017002028.1:c.12466A>C	XP_016857517.1:p.Ile4156Leu
NM_001035.3:c.12433A>C MANE Select	NP_001026.2:p.Ile4145Leu