Canonical Allele Identifier: CA345424057

Gene: RYR2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5410T>C	ENSP00000499659.2:n.*5410T>C
ENST00000659194.3:c.14300T>C	ENSP00000499653.3:p.Leu4767Ser
ENST00000660292.2:c.14339T>C	ENSP00000499787.2:p.Leu4780Ser
ENST00000659194.2:c.6489T>C
ENST00000366574.7:c.14318T>C MANE Select	ENSP00000355533.2:p.Leu4773Ser
ENST00000360064.7:c.14267T>C	ENSP00000353174.7:p.Leu4756Ser
ENST00000366574.6:c.14318T>C	ENSP00000355533.2:p.Leu4773Ser
ENST00000608590.5:n.829T>C
NM_001035.2:c.14318T>C	NP_001026.2:p.Leu4773Ser
XM_006711802.2:c.14372T>C	XP_006711865.1:p.Leu4791Ser
XM_006711803.2:c.14369T>C	XP_006711866.1:p.Leu4790Ser
XM_006711804.2:c.14348T>C	XP_006711867.1:p.Leu4783Ser
XM_006711805.2:c.14342T>C	XP_006711868.1:p.Leu4781Ser
XM_006711806.2:c.14336T>C	XP_006711869.1:p.Leu4779Ser
XM_006711807.2:c.14312T>C	XP_006711870.1:p.Leu4771Ser
XM_006711808.2:c.14135T>C	XP_006711871.1:p.Leu4712Ser
XM_006711810.2:c.14279T>C	XP_006711873.1:p.Leu4760Ser
XM_006711802.3:c.14372T>C	XP_006711865.1:p.Leu4791Ser
XM_006711803.3:c.14369T>C	XP_006711866.1:p.Leu4790Ser
XM_006711804.3:c.14348T>C	XP_006711867.1:p.Leu4783Ser
XM_006711805.3:c.14342T>C	XP_006711868.1:p.Leu4781Ser
XM_006711806.3:c.14336T>C	XP_006711869.1:p.Leu4779Ser
XM_006711807.3:c.14312T>C	XP_006711870.1:p.Leu4771Ser
XM_006711808.3:c.14135T>C	XP_006711871.1:p.Leu4712Ser
XM_006711810.3:c.14279T>C	XP_006711873.1:p.Leu4760Ser
XM_017002028.1:c.14351T>C	XP_016857517.1:p.Leu4784Ser
NM_001035.3:c.14318T>C MANE Select	NP_001026.2:p.Leu4773Ser