Canonical Allele Identifier: CA345424478

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972309G>C (hg19) ; chr1:g.237809009G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809009G>C , CM000663.2:g.237809009G>C	GRCh38
NC_000001.10:g.237972309G>C , CM000663.1:g.237972309G>C	GRCh37
NC_000001.9:g.236038932G>C	NCBI36
NG_008799.2:g.771608G>C
NG_008799.3:g.771826G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5499G>C	ENSP00000499659.2:n.*5499G>C
ENST00000659194.3:c.14389G>C	ENSP00000499653.3:p.Asp4797His
ENST00000660292.2:c.14428G>C	ENSP00000499787.2:p.Asp4810His
ENST00000659194.2:c.6578G>C
ENST00000366574.7:c.14407G>C MANE Select	ENSP00000355533.2:p.Asp4803His
ENST00000360064.7:c.14356G>C	ENSP00000353174.7:p.Asp4786His
ENST00000366574.6:c.14407G>C	ENSP00000355533.2:p.Asp4803His
ENST00000608590.5:n.918G>C
NM_001035.2:c.14407G>C	NP_001026.2:p.Asp4803His
XM_006711802.2:c.14461G>C	XP_006711865.1:p.Asp4821His
XM_006711803.2:c.14458G>C	XP_006711866.1:p.Asp4820His
XM_006711804.2:c.14437G>C	XP_006711867.1:p.Asp4813His
XM_006711805.2:c.14431G>C	XP_006711868.1:p.Asp4811His
XM_006711806.2:c.14425G>C	XP_006711869.1:p.Asp4809His
XM_006711807.2:c.14401G>C	XP_006711870.1:p.Asp4801His
XM_006711808.2:c.14224G>C	XP_006711871.1:p.Asp4742His
XM_006711810.2:c.14368G>C	XP_006711873.1:p.Asp4790His
XM_006711802.3:c.14461G>C	XP_006711865.1:p.Asp4821His
XM_006711803.3:c.14458G>C	XP_006711866.1:p.Asp4820His
XM_006711804.3:c.14437G>C	XP_006711867.1:p.Asp4813His
XM_006711805.3:c.14431G>C	XP_006711868.1:p.Asp4811His
XM_006711806.3:c.14425G>C	XP_006711869.1:p.Asp4809His
XM_006711807.3:c.14401G>C	XP_006711870.1:p.Asp4801His
XM_006711808.3:c.14224G>C	XP_006711871.1:p.Asp4742His
XM_006711810.3:c.14368G>C	XP_006711873.1:p.Asp4790His
XM_017002028.1:c.14440G>C	XP_016857517.1:p.Asp4814His
NM_001035.3:c.14407G>C MANE Select	NP_001026.2:p.Asp4803His