Canonical Allele Identifier: CA345424456

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972303A>C (hg19) ; chr1:g.237809003A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809003A>C , CM000663.2:g.237809003A>C	GRCh38
NC_000001.10:g.237972303A>C , CM000663.1:g.237972303A>C	GRCh37
NC_000001.9:g.236038926A>C	NCBI36
NG_008799.2:g.771602A>C
NG_008799.3:g.771820A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5493A>C	ENSP00000499659.2:n.*5493A>C
ENST00000659194.3:c.14383A>C	ENSP00000499653.3:p.Thr4795Pro
ENST00000660292.2:c.14422A>C	ENSP00000499787.2:p.Thr4808Pro
ENST00000659194.2:c.6572A>C
ENST00000366574.7:c.14401A>C MANE Select	ENSP00000355533.2:p.Thr4801Pro
ENST00000360064.7:c.14350A>C	ENSP00000353174.7:p.Thr4784Pro
ENST00000366574.6:c.14401A>C	ENSP00000355533.2:p.Thr4801Pro
ENST00000608590.5:n.912A>C
NM_001035.2:c.14401A>C	NP_001026.2:p.Thr4801Pro
XM_006711802.2:c.14455A>C	XP_006711865.1:p.Thr4819Pro
XM_006711803.2:c.14452A>C	XP_006711866.1:p.Thr4818Pro
XM_006711804.2:c.14431A>C	XP_006711867.1:p.Thr4811Pro
XM_006711805.2:c.14425A>C	XP_006711868.1:p.Thr4809Pro
XM_006711806.2:c.14419A>C	XP_006711869.1:p.Thr4807Pro
XM_006711807.2:c.14395A>C	XP_006711870.1:p.Thr4799Pro
XM_006711808.2:c.14218A>C	XP_006711871.1:p.Thr4740Pro
XM_006711810.2:c.14362A>C	XP_006711873.1:p.Thr4788Pro
XM_006711802.3:c.14455A>C	XP_006711865.1:p.Thr4819Pro
XM_006711803.3:c.14452A>C	XP_006711866.1:p.Thr4818Pro
XM_006711804.3:c.14431A>C	XP_006711867.1:p.Thr4811Pro
XM_006711805.3:c.14425A>C	XP_006711868.1:p.Thr4809Pro
XM_006711806.3:c.14419A>C	XP_006711869.1:p.Thr4807Pro
XM_006711807.3:c.14395A>C	XP_006711870.1:p.Thr4799Pro
XM_006711808.3:c.14218A>C	XP_006711871.1:p.Thr4740Pro
XM_006711810.3:c.14362A>C	XP_006711873.1:p.Thr4788Pro
XM_017002028.1:c.14434A>C	XP_016857517.1:p.Thr4812Pro
NM_001035.3:c.14401A>C MANE Select	NP_001026.2:p.Thr4801Pro