Canonical Allele Identifier: CA2499214615

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237819031T>C , CM000663.2:g.237819031T>C	GRCh38
NC_000001.10:g.237982331T>C , CM000663.1:g.237982331T>C	GRCh37
NC_000001.9:g.236048954T>C	NCBI36
NG_008799.2:g.781630T>C
NG_008799.3:g.781848T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14434-5T>C MANE Select	NP_001026.2:n.14434-5T>C
ENST00000366574.7:c.14434-5T>C MANE Select	ENSP00000355533.2:n.14434-5T>C
NM_001035.2:c.14434-5T>C	NP_001026.2:n.14434-5T>C
ENST00000360064.7:c.14383-5T>C	ENSP00000353174.7:n.14383-5T>C
ENST00000366574.6:c.14434-5T>C	ENSP00000355533.2:n.14434-5T>C
ENST00000608590.5:n.945-5T>C
ENST00000609119.2:c.*5526-5T>C	ENSP00000499659.2:n.*5526-5T>C
ENST00000659194.2:c.6605-5T>C
ENST00000659194.3:c.14416-5T>C	ENSP00000499653.3:n.14416-5T>C
ENST00000660292.2:c.14455-5T>C	ENSP00000499787.2:n.14455-5T>C
XM_006711802.2:c.14488-5T>C	XP_006711865.1:n.14488-5T>C
XM_006711802.3:c.14488-5T>C	XP_006711865.1:n.14488-5T>C
XM_006711803.2:c.14485-5T>C	XP_006711866.1:n.14485-5T>C
XM_006711803.3:c.14485-5T>C	XP_006711866.1:n.14485-5T>C
XM_006711804.2:c.14464-5T>C	XP_006711867.1:n.14464-5T>C
XM_006711804.3:c.14464-5T>C	XP_006711867.1:n.14464-5T>C
XM_006711805.2:c.14458-5T>C	XP_006711868.1:n.14458-5T>C
XM_006711805.3:c.14458-5T>C	XP_006711868.1:n.14458-5T>C
XM_006711806.2:c.14452-5T>C	XP_006711869.1:n.14452-5T>C
XM_006711806.3:c.14452-5T>C	XP_006711869.1:n.14452-5T>C
XM_006711807.2:c.14428-5T>C	XP_006711870.1:n.14428-5T>C
XM_006711807.3:c.14428-5T>C	XP_006711870.1:n.14428-5T>C
XM_006711808.2:c.14251-5T>C	XP_006711871.1:n.14251-5T>C
XM_006711808.3:c.14251-5T>C	XP_006711871.1:n.14251-5T>C
XM_006711810.2:c.14395-5T>C	XP_006711873.1:n.14395-5T>C
XM_006711810.3:c.14395-5T>C	XP_006711873.1:n.14395-5T>C
XM_017002028.1:c.14467-5T>C	XP_016857517.1:n.14467-5T>C