Canonical Allele Identifier: CA345424523

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972318T>A (hg19) ; chr1:g.237809018T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809018T>A , CM000663.2:g.237809018T>A	GRCh38
NC_000001.10:g.237972318T>A , CM000663.1:g.237972318T>A	GRCh37
NC_000001.9:g.236038941T>A	NCBI36
NG_008799.2:g.771617T>A
NG_008799.3:g.771835T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5508T>A	ENSP00000499659.2:n.*5508T>A
ENST00000659194.3:c.14398T>A	ENSP00000499653.3:p.Cys4800Ser
ENST00000660292.2:c.14437T>A	ENSP00000499787.2:p.Cys4813Ser
ENST00000659194.2:c.6587T>A
ENST00000366574.7:c.14416T>A MANE Select	ENSP00000355533.2:p.Cys4806Ser
ENST00000360064.7:c.14365T>A	ENSP00000353174.7:p.Cys4789Ser
ENST00000366574.6:c.14416T>A	ENSP00000355533.2:p.Cys4806Ser
ENST00000608590.5:n.927T>A
NM_001035.2:c.14416T>A	NP_001026.2:p.Cys4806Ser
XM_006711802.2:c.14470T>A	XP_006711865.1:p.Cys4824Ser
XM_006711803.2:c.14467T>A	XP_006711866.1:p.Cys4823Ser
XM_006711804.2:c.14446T>A	XP_006711867.1:p.Cys4816Ser
XM_006711805.2:c.14440T>A	XP_006711868.1:p.Cys4814Ser
XM_006711806.2:c.14434T>A	XP_006711869.1:p.Cys4812Ser
XM_006711807.2:c.14410T>A	XP_006711870.1:p.Cys4804Ser
XM_006711808.2:c.14233T>A	XP_006711871.1:p.Cys4745Ser
XM_006711810.2:c.14377T>A	XP_006711873.1:p.Cys4793Ser
XM_006711802.3:c.14470T>A	XP_006711865.1:p.Cys4824Ser
XM_006711803.3:c.14467T>A	XP_006711866.1:p.Cys4823Ser
XM_006711804.3:c.14446T>A	XP_006711867.1:p.Cys4816Ser
XM_006711805.3:c.14440T>A	XP_006711868.1:p.Cys4814Ser
XM_006711806.3:c.14434T>A	XP_006711869.1:p.Cys4812Ser
XM_006711807.3:c.14410T>A	XP_006711870.1:p.Cys4804Ser
XM_006711808.3:c.14233T>A	XP_006711871.1:p.Cys4745Ser
XM_006711810.3:c.14377T>A	XP_006711873.1:p.Cys4793Ser
XM_017002028.1:c.14449T>A	XP_016857517.1:p.Cys4817Ser
NM_001035.3:c.14416T>A MANE Select	NP_001026.2:p.Cys4806Ser