Canonical Allele Identifier: CA345424579

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972327A>C (hg19) ; chr1:g.237809027A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809027A>C , CM000663.2:g.237809027A>C	GRCh38
NC_000001.10:g.237972327A>C , CM000663.1:g.237972327A>C	GRCh37
NC_000001.9:g.236038950A>C	NCBI36
NG_008799.2:g.771626A>C
NG_008799.3:g.771844A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5517A>C	ENSP00000499659.2:n.*5517A>C
ENST00000659194.3:c.14407A>C	ENSP00000499653.3:p.Met4803Leu
ENST00000660292.2:c.14446A>C	ENSP00000499787.2:p.Met4816Leu
ENST00000659194.2:c.6596A>C
ENST00000366574.7:c.14425A>C MANE Select	ENSP00000355533.2:p.Met4809Leu
ENST00000360064.7:c.14374A>C	ENSP00000353174.7:p.Met4792Leu
ENST00000366574.6:c.14425A>C	ENSP00000355533.2:p.Met4809Leu
ENST00000608590.5:n.936A>C
NM_001035.2:c.14425A>C	NP_001026.2:p.Met4809Leu
XM_006711802.2:c.14479A>C	XP_006711865.1:p.Met4827Leu
XM_006711803.2:c.14476A>C	XP_006711866.1:p.Met4826Leu
XM_006711804.2:c.14455A>C	XP_006711867.1:p.Met4819Leu
XM_006711805.2:c.14449A>C	XP_006711868.1:p.Met4817Leu
XM_006711806.2:c.14443A>C	XP_006711869.1:p.Met4815Leu
XM_006711807.2:c.14419A>C	XP_006711870.1:p.Met4807Leu
XM_006711808.2:c.14242A>C	XP_006711871.1:p.Met4748Leu
XM_006711810.2:c.14386A>C	XP_006711873.1:p.Met4796Leu
XM_006711802.3:c.14479A>C	XP_006711865.1:p.Met4827Leu
XM_006711803.3:c.14476A>C	XP_006711866.1:p.Met4826Leu
XM_006711804.3:c.14455A>C	XP_006711867.1:p.Met4819Leu
XM_006711805.3:c.14449A>C	XP_006711868.1:p.Met4817Leu
XM_006711806.3:c.14443A>C	XP_006711869.1:p.Met4815Leu
XM_006711807.3:c.14419A>C	XP_006711870.1:p.Met4807Leu
XM_006711808.3:c.14242A>C	XP_006711871.1:p.Met4748Leu
XM_006711810.3:c.14386A>C	XP_006711873.1:p.Met4796Leu
XM_017002028.1:c.14458A>C	XP_016857517.1:p.Met4820Leu
NM_001035.3:c.14425A>C MANE Select	NP_001026.2:p.Met4809Leu