Canonical Allele Identifier: CA345424499

Gene: RYR2

Linked Data

• dbSNP Id: rs1436352609
• MyVariant Identifiers: chr1:g.237972313T>C (hg19) ; chr1:g.237809013T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809013T>C , CM000663.2:g.237809013T>C	GRCh38
NC_000001.10:g.237972313T>C , CM000663.1:g.237972313T>C	GRCh37
NC_000001.9:g.236038936T>C	NCBI36
NG_008799.2:g.771612T>C
NG_008799.3:g.771830T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5503T>C	ENSP00000499659.2:n.*5503T>C
ENST00000659194.3:c.14393T>C	ENSP00000499653.3:p.Met4798Thr
ENST00000660292.2:c.14432T>C	ENSP00000499787.2:p.Met4811Thr
ENST00000659194.2:c.6582T>C
ENST00000366574.7:c.14411T>C MANE Select	ENSP00000355533.2:p.Met4804Thr
ENST00000360064.7:c.14360T>C	ENSP00000353174.7:p.Met4787Thr
ENST00000366574.6:c.14411T>C	ENSP00000355533.2:p.Met4804Thr
ENST00000608590.5:n.922T>C
NM_001035.2:c.14411T>C	NP_001026.2:p.Met4804Thr
XM_006711802.2:c.14465T>C	XP_006711865.1:p.Met4822Thr
XM_006711803.2:c.14462T>C	XP_006711866.1:p.Met4821Thr
XM_006711804.2:c.14441T>C	XP_006711867.1:p.Met4814Thr
XM_006711805.2:c.14435T>C	XP_006711868.1:p.Met4812Thr
XM_006711806.2:c.14429T>C	XP_006711869.1:p.Met4810Thr
XM_006711807.2:c.14405T>C	XP_006711870.1:p.Met4802Thr
XM_006711808.2:c.14228T>C	XP_006711871.1:p.Met4743Thr
XM_006711810.2:c.14372T>C	XP_006711873.1:p.Met4791Thr
XM_006711802.3:c.14465T>C	XP_006711865.1:p.Met4822Thr
XM_006711803.3:c.14462T>C	XP_006711866.1:p.Met4821Thr
XM_006711804.3:c.14441T>C	XP_006711867.1:p.Met4814Thr
XM_006711805.3:c.14435T>C	XP_006711868.1:p.Met4812Thr
XM_006711806.3:c.14429T>C	XP_006711869.1:p.Met4810Thr
XM_006711807.3:c.14405T>C	XP_006711870.1:p.Met4802Thr
XM_006711808.3:c.14228T>C	XP_006711871.1:p.Met4743Thr
XM_006711810.3:c.14372T>C	XP_006711873.1:p.Met4791Thr
XM_017002028.1:c.14444T>C	XP_016857517.1:p.Met4815Thr
NM_001035.3:c.14411T>C MANE Select	NP_001026.2:p.Met4804Thr