Canonical Allele Identifier: CA345413722

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947612G>C (hg19) ; chr1:g.237784312G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784312G>C , CM000663.2:g.237784312G>C	GRCh38
NC_000001.10:g.237947612G>C , CM000663.1:g.237947612G>C	GRCh37
NC_000001.9:g.236014235G>C	NCBI36
NG_008799.2:g.746911G>C
NG_008799.3:g.747129G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3692G>C	ENSP00000499659.2:n.*3692G>C
ENST00000659194.3:c.12588G>C	ENSP00000499653.3:p.Met4196Ile
ENST00000660292.2:c.12621G>C	ENSP00000499787.2:p.Met4207Ile
ENST00000659194.2:c.4777G>C
ENST00000366574.7:c.12600G>C MANE Select	ENSP00000355533.2:p.Met4200Ile
ENST00000659194.1:c.4777G>C
ENST00000660292.1:c.2653G>C
ENST00000360064.7:c.12552G>C	ENSP00000353174.7:p.Met4184Ile
ENST00000366574.6:c.12600G>C	ENSP00000355533.2:p.Met4200Ile
ENST00000609119.1:n.3795G>C
NM_001035.2:c.12600G>C	NP_001026.2:p.Met4200Ile
XM_006711802.2:c.12654G>C	XP_006711865.1:p.Met4218Ile
XM_006711803.2:c.12651G>C	XP_006711866.1:p.Met4217Ile
XM_006711804.2:c.12630G>C	XP_006711867.1:p.Met4210Ile
XM_006711805.2:c.12624G>C	XP_006711868.1:p.Met4208Ile
XM_006711806.2:c.12618G>C	XP_006711869.1:p.Met4206Ile
XM_006711807.2:c.12594G>C	XP_006711870.1:p.Met4198Ile
XM_006711808.2:c.12417G>C	XP_006711871.1:p.Met4139Ile
XM_006711810.2:c.12561G>C	XP_006711873.1:p.Met4187Ile
XM_006711802.3:c.12654G>C	XP_006711865.1:p.Met4218Ile
XM_006711803.3:c.12651G>C	XP_006711866.1:p.Met4217Ile
XM_006711804.3:c.12630G>C	XP_006711867.1:p.Met4210Ile
XM_006711805.3:c.12624G>C	XP_006711868.1:p.Met4208Ile
XM_006711806.3:c.12618G>C	XP_006711869.1:p.Met4206Ile
XM_006711807.3:c.12594G>C	XP_006711870.1:p.Met4198Ile
XM_006711808.3:c.12417G>C	XP_006711871.1:p.Met4139Ile
XM_006711810.3:c.12561G>C	XP_006711873.1:p.Met4187Ile
XM_017002028.1:c.12633G>C	XP_016857517.1:p.Met4211Ile
NM_001035.3:c.12600G>C MANE Select	NP_001026.2:p.Met4200Ile