Canonical Allele Identifier: CA39827547

Gene: RYR2

Linked Data

• dbSNP Id: rs1040201228
• MyVariant Identifiers: chr1:g.237947390G>T (hg19) ; chr1:g.237784090G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784090G>T , CM000663.2:g.237784090G>T	GRCh38
NC_000001.10:g.237947390G>T , CM000663.1:g.237947390G>T	GRCh37
NC_000001.9:g.236014013G>T	NCBI36
NG_008799.2:g.746689G>T
NG_008799.3:g.746907G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3470G>T	ENSP00000499659.2:n.*3470G>T
ENST00000659194.3:c.12366G>T	ENSP00000499653.3:p.Leu4122=
ENST00000660292.2:c.12399G>T	ENSP00000499787.2:p.Leu4133=
ENST00000659194.2:c.4555G>T
ENST00000366574.7:c.12378G>T MANE Select	ENSP00000355533.2:p.Leu4126=
ENST00000659194.1:c.4555G>T
ENST00000660292.1:c.2431G>T
ENST00000360064.7:c.12330G>T	ENSP00000353174.7:p.Leu4110=
ENST00000366574.6:c.12378G>T	ENSP00000355533.2:p.Leu4126=
ENST00000609119.1:n.3573G>T
NM_001035.2:c.12378G>T	NP_001026.2:p.Leu4126=
XM_006711802.2:c.12432G>T	XP_006711865.1:p.Leu4144=
XM_006711803.2:c.12429G>T	XP_006711866.1:p.Leu4143=
XM_006711804.2:c.12408G>T	XP_006711867.1:p.Leu4136=
XM_006711805.2:c.12402G>T	XP_006711868.1:p.Leu4134=
XM_006711806.2:c.12396G>T	XP_006711869.1:p.Leu4132=
XM_006711807.2:c.12372G>T	XP_006711870.1:p.Leu4124=
XM_006711808.2:c.12195G>T	XP_006711871.1:p.Leu4065=
XM_006711810.2:c.12339G>T	XP_006711873.1:p.Leu4113=
XM_006711802.3:c.12432G>T	XP_006711865.1:p.Leu4144=
XM_006711803.3:c.12429G>T	XP_006711866.1:p.Leu4143=
XM_006711804.3:c.12408G>T	XP_006711867.1:p.Leu4136=
XM_006711805.3:c.12402G>T	XP_006711868.1:p.Leu4134=
XM_006711806.3:c.12396G>T	XP_006711869.1:p.Leu4132=
XM_006711807.3:c.12372G>T	XP_006711870.1:p.Leu4124=
XM_006711808.3:c.12195G>T	XP_006711871.1:p.Leu4065=
XM_006711810.3:c.12339G>T	XP_006711873.1:p.Leu4113=
XM_017002028.1:c.12411G>T	XP_016857517.1:p.Leu4137=
NM_001035.3:c.12378G>T MANE Select	NP_001026.2:p.Leu4126=