Canonical Allele Identifier: CA345412972

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784038T>C , CM000663.2:g.237784038T>C	GRCh38
NC_000001.10:g.237947338T>C , CM000663.1:g.237947338T>C	GRCh37
NC_000001.9:g.236013961T>C	NCBI36
NG_008799.2:g.746637T>C
NG_008799.3:g.746855T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3418T>C	ENSP00000499659.2:n.*3418T>C
ENST00000659194.3:c.12314T>C	ENSP00000499653.3:p.Met4105Thr
ENST00000660292.2:c.12347T>C	ENSP00000499787.2:p.Met4116Thr
ENST00000659194.2:c.4503T>C
ENST00000366574.7:c.12326T>C MANE Select	ENSP00000355533.2:p.Met4109Thr
ENST00000659194.1:c.4503T>C
ENST00000660292.1:c.2379T>C
ENST00000360064.7:c.12278T>C	ENSP00000353174.7:p.Met4093Thr
ENST00000366574.6:c.12326T>C	ENSP00000355533.2:p.Met4109Thr
ENST00000609119.1:n.3521T>C
NM_001035.2:c.12326T>C	NP_001026.2:p.Met4109Thr
XM_006711802.2:c.12380T>C	XP_006711865.1:p.Met4127Thr
XM_006711803.2:c.12377T>C	XP_006711866.1:p.Met4126Thr
XM_006711804.2:c.12356T>C	XP_006711867.1:p.Met4119Thr
XM_006711805.2:c.12350T>C	XP_006711868.1:p.Met4117Thr
XM_006711806.2:c.12344T>C	XP_006711869.1:p.Met4115Thr
XM_006711807.2:c.12320T>C	XP_006711870.1:p.Met4107Thr
XM_006711808.2:c.12143T>C	XP_006711871.1:p.Met4048Thr
XM_006711810.2:c.12287T>C	XP_006711873.1:p.Met4096Thr
XM_006711802.3:c.12380T>C	XP_006711865.1:p.Met4127Thr
XM_006711803.3:c.12377T>C	XP_006711866.1:p.Met4126Thr
XM_006711804.3:c.12356T>C	XP_006711867.1:p.Met4119Thr
XM_006711805.3:c.12350T>C	XP_006711868.1:p.Met4117Thr
XM_006711806.3:c.12344T>C	XP_006711869.1:p.Met4115Thr
XM_006711807.3:c.12320T>C	XP_006711870.1:p.Met4107Thr
XM_006711808.3:c.12143T>C	XP_006711871.1:p.Met4048Thr
XM_006711810.3:c.12287T>C	XP_006711873.1:p.Met4096Thr
XM_017002028.1:c.12359T>C	XP_016857517.1:p.Met4120Thr
NM_001035.3:c.12326T>C MANE Select	NP_001026.2:p.Met4109Thr