Canonical Allele Identifier: CA345424055

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972220T>A (hg19) ; chr1:g.237808920T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808920T>A , CM000663.2:g.237808920T>A	GRCh38
NC_000001.10:g.237972220T>A , CM000663.1:g.237972220T>A	GRCh37
NC_000001.9:g.236038843T>A	NCBI36
NG_008799.2:g.771519T>A
NG_008799.3:g.771737T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5410T>A	ENSP00000499659.2:n.*5410T>A
ENST00000659194.3:c.14300T>A	ENSP00000499653.3:p.Leu4767Ter
ENST00000660292.2:c.14339T>A	ENSP00000499787.2:p.Leu4780Ter
ENST00000659194.2:c.6489T>A
ENST00000366574.7:c.14318T>A MANE Select	ENSP00000355533.2:p.Leu4773Ter
ENST00000360064.7:c.14267T>A	ENSP00000353174.7:p.Leu4756Ter
ENST00000366574.6:c.14318T>A	ENSP00000355533.2:p.Leu4773Ter
ENST00000608590.5:n.829T>A
NM_001035.2:c.14318T>A	NP_001026.2:p.Leu4773Ter
XM_006711802.2:c.14372T>A	XP_006711865.1:p.Leu4791Ter
XM_006711803.2:c.14369T>A	XP_006711866.1:p.Leu4790Ter
XM_006711804.2:c.14348T>A	XP_006711867.1:p.Leu4783Ter
XM_006711805.2:c.14342T>A	XP_006711868.1:p.Leu4781Ter
XM_006711806.2:c.14336T>A	XP_006711869.1:p.Leu4779Ter
XM_006711807.2:c.14312T>A	XP_006711870.1:p.Leu4771Ter
XM_006711808.2:c.14135T>A	XP_006711871.1:p.Leu4712Ter
XM_006711810.2:c.14279T>A	XP_006711873.1:p.Leu4760Ter
XM_006711802.3:c.14372T>A	XP_006711865.1:p.Leu4791Ter
XM_006711803.3:c.14369T>A	XP_006711866.1:p.Leu4790Ter
XM_006711804.3:c.14348T>A	XP_006711867.1:p.Leu4783Ter
XM_006711805.3:c.14342T>A	XP_006711868.1:p.Leu4781Ter
XM_006711806.3:c.14336T>A	XP_006711869.1:p.Leu4779Ter
XM_006711807.3:c.14312T>A	XP_006711870.1:p.Leu4771Ter
XM_006711808.3:c.14135T>A	XP_006711871.1:p.Leu4712Ter
XM_006711810.3:c.14279T>A	XP_006711873.1:p.Leu4760Ter
XM_017002028.1:c.14351T>A	XP_016857517.1:p.Leu4784Ter
NM_001035.3:c.14318T>A MANE Select	NP_001026.2:p.Leu4773Ter