Canonical Allele Identifier: CA345413818

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947655T>C (hg19) ; chr1:g.237784355T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784355T>C , CM000663.2:g.237784355T>C	GRCh38
NC_000001.10:g.237947655T>C , CM000663.1:g.237947655T>C	GRCh37
NC_000001.9:g.236014278T>C	NCBI36
NG_008799.2:g.746954T>C
NG_008799.3:g.747172T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3735T>C	ENSP00000499659.2:n.*3735T>C
ENST00000659194.3:c.12631T>C	ENSP00000499653.3:p.Ser4211Pro
ENST00000660292.2:c.12664T>C	ENSP00000499787.2:p.Ser4222Pro
ENST00000659194.2:c.4820T>C
ENST00000366574.7:c.12643T>C MANE Select	ENSP00000355533.2:p.Ser4215Pro
ENST00000659194.1:c.4820T>C
ENST00000660292.1:c.2696T>C
ENST00000360064.7:c.12595T>C	ENSP00000353174.7:p.Ser4199Pro
ENST00000366574.6:c.12643T>C	ENSP00000355533.2:p.Ser4215Pro
ENST00000609119.1:n.3838T>C
NM_001035.2:c.12643T>C	NP_001026.2:p.Ser4215Pro
XM_006711802.2:c.12697T>C	XP_006711865.1:p.Ser4233Pro
XM_006711803.2:c.12694T>C	XP_006711866.1:p.Ser4232Pro
XM_006711804.2:c.12673T>C	XP_006711867.1:p.Ser4225Pro
XM_006711805.2:c.12667T>C	XP_006711868.1:p.Ser4223Pro
XM_006711806.2:c.12661T>C	XP_006711869.1:p.Ser4221Pro
XM_006711807.2:c.12637T>C	XP_006711870.1:p.Ser4213Pro
XM_006711808.2:c.12460T>C	XP_006711871.1:p.Ser4154Pro
XM_006711810.2:c.12604T>C	XP_006711873.1:p.Ser4202Pro
XM_006711802.3:c.12697T>C	XP_006711865.1:p.Ser4233Pro
XM_006711803.3:c.12694T>C	XP_006711866.1:p.Ser4232Pro
XM_006711804.3:c.12673T>C	XP_006711867.1:p.Ser4225Pro
XM_006711805.3:c.12667T>C	XP_006711868.1:p.Ser4223Pro
XM_006711806.3:c.12661T>C	XP_006711869.1:p.Ser4221Pro
XM_006711807.3:c.12637T>C	XP_006711870.1:p.Ser4213Pro
XM_006711808.3:c.12460T>C	XP_006711871.1:p.Ser4154Pro
XM_006711810.3:c.12604T>C	XP_006711873.1:p.Ser4202Pro
XM_017002028.1:c.12676T>C	XP_016857517.1:p.Ser4226Pro
NM_001035.3:c.12643T>C MANE Select	NP_001026.2:p.Ser4215Pro