Canonical Allele Identifier: CA345413742

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947622G>C (hg19) ; chr1:g.237784322G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784322G>C , CM000663.2:g.237784322G>C	GRCh38
NC_000001.10:g.237947622G>C , CM000663.1:g.237947622G>C	GRCh37
NC_000001.9:g.236014245G>C	NCBI36
NG_008799.2:g.746921G>C
NG_008799.3:g.747139G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3702G>C	ENSP00000499659.2:n.*3702G>C
ENST00000659194.3:c.12598G>C	ENSP00000499653.3:p.Ala4200Pro
ENST00000660292.2:c.12631G>C	ENSP00000499787.2:p.Ala4211Pro
ENST00000659194.2:c.4787G>C
ENST00000366574.7:c.12610G>C MANE Select	ENSP00000355533.2:p.Ala4204Pro
ENST00000659194.1:c.4787G>C
ENST00000660292.1:c.2663G>C
ENST00000360064.7:c.12562G>C	ENSP00000353174.7:p.Ala4188Pro
ENST00000366574.6:c.12610G>C	ENSP00000355533.2:p.Ala4204Pro
ENST00000609119.1:n.3805G>C
NM_001035.2:c.12610G>C	NP_001026.2:p.Ala4204Pro
XM_006711802.2:c.12664G>C	XP_006711865.1:p.Ala4222Pro
XM_006711803.2:c.12661G>C	XP_006711866.1:p.Ala4221Pro
XM_006711804.2:c.12640G>C	XP_006711867.1:p.Ala4214Pro
XM_006711805.2:c.12634G>C	XP_006711868.1:p.Ala4212Pro
XM_006711806.2:c.12628G>C	XP_006711869.1:p.Ala4210Pro
XM_006711807.2:c.12604G>C	XP_006711870.1:p.Ala4202Pro
XM_006711808.2:c.12427G>C	XP_006711871.1:p.Ala4143Pro
XM_006711810.2:c.12571G>C	XP_006711873.1:p.Ala4191Pro
XM_006711802.3:c.12664G>C	XP_006711865.1:p.Ala4222Pro
XM_006711803.3:c.12661G>C	XP_006711866.1:p.Ala4221Pro
XM_006711804.3:c.12640G>C	XP_006711867.1:p.Ala4214Pro
XM_006711805.3:c.12634G>C	XP_006711868.1:p.Ala4212Pro
XM_006711806.3:c.12628G>C	XP_006711869.1:p.Ala4210Pro
XM_006711807.3:c.12604G>C	XP_006711870.1:p.Ala4202Pro
XM_006711808.3:c.12427G>C	XP_006711871.1:p.Ala4143Pro
XM_006711810.3:c.12571G>C	XP_006711873.1:p.Ala4191Pro
XM_017002028.1:c.12643G>C	XP_016857517.1:p.Ala4215Pro
NM_001035.3:c.12610G>C MANE Select	NP_001026.2:p.Ala4204Pro