Canonical Allele Identifier: CA424051746

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972305A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809005A>C , CM000663.2:g.237809005A>C	GRCh38
NC_000001.10:g.237972305A>C , CM000663.1:g.237972305A>C	GRCh37
NC_000001.9:g.236038928A>C	NCBI36
NG_008799.2:g.771604A>C
NG_008799.3:g.771822A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5495A>C	ENSP00000499659.2:n.*5495A>C
ENST00000659194.3:c.14385A>C	ENSP00000499653.3:p.Thr4795=
ENST00000660292.2:c.14424A>C	ENSP00000499787.2:p.Thr4808=
ENST00000659194.2:c.6574A>C
ENST00000366574.7:c.14403A>C MANE Select	ENSP00000355533.2:p.Thr4801=
ENST00000360064.7:c.14352A>C	ENSP00000353174.7:p.Thr4784=
ENST00000366574.6:c.14403A>C	ENSP00000355533.2:p.Thr4801=
ENST00000608590.5:n.914A>C
NM_001035.2:c.14403A>C	NP_001026.2:p.Thr4801=
XM_006711802.2:c.14457A>C	XP_006711865.1:p.Thr4819=
XM_006711803.2:c.14454A>C	XP_006711866.1:p.Thr4818=
XM_006711804.2:c.14433A>C	XP_006711867.1:p.Thr4811=
XM_006711805.2:c.14427A>C	XP_006711868.1:p.Thr4809=
XM_006711806.2:c.14421A>C	XP_006711869.1:p.Thr4807=
XM_006711807.2:c.14397A>C	XP_006711870.1:p.Thr4799=
XM_006711808.2:c.14220A>C	XP_006711871.1:p.Thr4740=
XM_006711810.2:c.14364A>C	XP_006711873.1:p.Thr4788=
XM_006711802.3:c.14457A>C	XP_006711865.1:p.Thr4819=
XM_006711803.3:c.14454A>C	XP_006711866.1:p.Thr4818=
XM_006711804.3:c.14433A>C	XP_006711867.1:p.Thr4811=
XM_006711805.3:c.14427A>C	XP_006711868.1:p.Thr4809=
XM_006711806.3:c.14421A>C	XP_006711869.1:p.Thr4807=
XM_006711807.3:c.14397A>C	XP_006711870.1:p.Thr4799=
XM_006711808.3:c.14220A>C	XP_006711871.1:p.Thr4740=
XM_006711810.3:c.14364A>C	XP_006711873.1:p.Thr4788=
XM_017002028.1:c.14436A>C	XP_016857517.1:p.Thr4812=
NM_001035.3:c.14403A>C MANE Select	NP_001026.2:p.Thr4801=