Canonical Allele Identifier: CA345424042

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972217G>C (hg19) ; chr1:g.237808917G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808917G>C , CM000663.2:g.237808917G>C	GRCh38
NC_000001.10:g.237972217G>C , CM000663.1:g.237972217G>C	GRCh37
NC_000001.9:g.236038840G>C	NCBI36
NG_008799.2:g.771516G>C
NG_008799.3:g.771734G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*5407G>C	ENSP00000499659.2:n.*5407G>C
ENST00000659194.3:c.14297G>C	ENSP00000499653.3:p.Gly4766Ala
ENST00000660292.2:c.14336G>C	ENSP00000499787.2:p.Gly4779Ala
ENST00000659194.2:c.6486G>C
ENST00000366574.7:c.14315G>C MANE Select	ENSP00000355533.2:p.Gly4772Ala
ENST00000360064.7:c.14264G>C	ENSP00000353174.7:p.Gly4755Ala
ENST00000366574.6:c.14315G>C	ENSP00000355533.2:p.Gly4772Ala
ENST00000608590.5:n.826G>C
NM_001035.2:c.14315G>C	NP_001026.2:p.Gly4772Ala
XM_006711802.2:c.14369G>C	XP_006711865.1:p.Gly4790Ala
XM_006711803.2:c.14366G>C	XP_006711866.1:p.Gly4789Ala
XM_006711804.2:c.14345G>C	XP_006711867.1:p.Gly4782Ala
XM_006711805.2:c.14339G>C	XP_006711868.1:p.Gly4780Ala
XM_006711806.2:c.14333G>C	XP_006711869.1:p.Gly4778Ala
XM_006711807.2:c.14309G>C	XP_006711870.1:p.Gly4770Ala
XM_006711808.2:c.14132G>C	XP_006711871.1:p.Gly4711Ala
XM_006711810.2:c.14276G>C	XP_006711873.1:p.Gly4759Ala
XM_006711802.3:c.14369G>C	XP_006711865.1:p.Gly4790Ala
XM_006711803.3:c.14366G>C	XP_006711866.1:p.Gly4789Ala
XM_006711804.3:c.14345G>C	XP_006711867.1:p.Gly4782Ala
XM_006711805.3:c.14339G>C	XP_006711868.1:p.Gly4780Ala
XM_006711806.3:c.14333G>C	XP_006711869.1:p.Gly4778Ala
XM_006711807.3:c.14309G>C	XP_006711870.1:p.Gly4770Ala
XM_006711808.3:c.14132G>C	XP_006711871.1:p.Gly4711Ala
XM_006711810.3:c.14276G>C	XP_006711873.1:p.Gly4759Ala
XM_017002028.1:c.14348G>C	XP_016857517.1:p.Gly4783Ala
NM_001035.3:c.14315G>C MANE Select	NP_001026.2:p.Gly4772Ala