Canonical Allele Identifier: CA345413653

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947584A>C (hg19) ; chr1:g.237784284A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784284A>C , CM000663.2:g.237784284A>C	GRCh38
NC_000001.10:g.237947584A>C , CM000663.1:g.237947584A>C	GRCh37
NC_000001.9:g.236014207A>C	NCBI36
NG_008799.2:g.746883A>C
NG_008799.3:g.747101A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3664A>C	ENSP00000499659.2:n.*3664A>C
ENST00000659194.3:c.12560A>C	ENSP00000499653.3:p.Asn4187Thr
ENST00000660292.2:c.12593A>C	ENSP00000499787.2:p.Asn4198Thr
ENST00000659194.2:c.4749A>C
ENST00000366574.7:c.12572A>C MANE Select	ENSP00000355533.2:p.Asn4191Thr
ENST00000659194.1:c.4749A>C
ENST00000660292.1:c.2625A>C
ENST00000360064.7:c.12524A>C	ENSP00000353174.7:p.Asn4175Thr
ENST00000366574.6:c.12572A>C	ENSP00000355533.2:p.Asn4191Thr
ENST00000609119.1:n.3767A>C
NM_001035.2:c.12572A>C	NP_001026.2:p.Asn4191Thr
XM_006711802.2:c.12626A>C	XP_006711865.1:p.Asn4209Thr
XM_006711803.2:c.12623A>C	XP_006711866.1:p.Asn4208Thr
XM_006711804.2:c.12602A>C	XP_006711867.1:p.Asn4201Thr
XM_006711805.2:c.12596A>C	XP_006711868.1:p.Asn4199Thr
XM_006711806.2:c.12590A>C	XP_006711869.1:p.Asn4197Thr
XM_006711807.2:c.12566A>C	XP_006711870.1:p.Asn4189Thr
XM_006711808.2:c.12389A>C	XP_006711871.1:p.Asn4130Thr
XM_006711810.2:c.12533A>C	XP_006711873.1:p.Asn4178Thr
XM_006711802.3:c.12626A>C	XP_006711865.1:p.Asn4209Thr
XM_006711803.3:c.12623A>C	XP_006711866.1:p.Asn4208Thr
XM_006711804.3:c.12602A>C	XP_006711867.1:p.Asn4201Thr
XM_006711805.3:c.12596A>C	XP_006711868.1:p.Asn4199Thr
XM_006711806.3:c.12590A>C	XP_006711869.1:p.Asn4197Thr
XM_006711807.3:c.12566A>C	XP_006711870.1:p.Asn4189Thr
XM_006711808.3:c.12389A>C	XP_006711871.1:p.Asn4130Thr
XM_006711810.3:c.12533A>C	XP_006711873.1:p.Asn4178Thr
XM_017002028.1:c.12605A>C	XP_016857517.1:p.Asn4202Thr
NM_001035.3:c.12572A>C MANE Select	NP_001026.2:p.Asn4191Thr