Canonical Allele Identifier: CA345396558

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237804213G>C (hg19) ; chr1:g.237640913G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237640913G>C , CM000663.2:g.237640913G>C	GRCh38
NC_000001.10:g.237804213G>C , CM000663.1:g.237804213G>C	GRCh37
NC_000001.9:g.235870836G>C	NCBI36
NG_008799.2:g.603512G>C
NG_008799.3:g.603730G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.7132G>C	ENSP00000499659.2:p.Glu2378Gln
ENST00000659194.3:c.7132G>C	ENSP00000499653.3:p.Glu2378Gln
ENST00000660292.2:c.7132G>C	ENSP00000499787.2:p.Glu2378Gln
ENST00000366574.7:c.7132G>C MANE Select	ENSP00000355533.2:p.Glu2378Gln
ENST00000360064.7:c.7084G>C	ENSP00000353174.7:p.Glu2362Gln
ENST00000366574.6:c.7132G>C	ENSP00000355533.2:p.Glu2378Gln
NM_001035.2:c.7132G>C	NP_001026.2:p.Glu2378Gln
XM_006711802.2:c.7162G>C	XP_006711865.1:p.Glu2388Gln
XM_006711803.2:c.7159G>C	XP_006711866.1:p.Glu2387Gln
XM_006711804.2:c.7162G>C	XP_006711867.1:p.Glu2388Gln
XM_006711805.2:c.7132G>C	XP_006711868.1:p.Glu2378Gln
XM_006711806.2:c.7162G>C	XP_006711869.1:p.Glu2388Gln
XM_006711807.2:c.7162G>C	XP_006711870.1:p.Glu2388Gln
XM_006711808.2:c.7162G>C	XP_006711871.1:p.Glu2388Gln
XM_006711809.2:c.7162G>C	XP_006711872.1:p.Glu2388Gln
XM_006711810.2:c.7129G>C	XP_006711873.1:p.Glu2377Gln
XR_949152.1:n.7443G>C
XM_006711802.3:c.7162G>C	XP_006711865.1:p.Glu2388Gln
XM_006711803.3:c.7159G>C	XP_006711866.1:p.Glu2387Gln
XM_006711804.3:c.7162G>C	XP_006711867.1:p.Glu2388Gln
XM_006711805.3:c.7132G>C	XP_006711868.1:p.Glu2378Gln
XM_006711806.3:c.7162G>C	XP_006711869.1:p.Glu2388Gln
XM_006711807.3:c.7162G>C	XP_006711870.1:p.Glu2388Gln
XM_006711808.3:c.7162G>C	XP_006711871.1:p.Glu2388Gln
XM_006711810.3:c.7129G>C	XP_006711873.1:p.Glu2377Gln
XM_017002028.1:c.7141G>C	XP_016857517.1:p.Glu2381Gln
XR_002957299.1:n.7476G>C
XR_949152.2:n.7476G>C
NM_001035.3:c.7132G>C MANE Select	NP_001026.2:p.Glu2378Gln