Canonical Allele Identifier: CA423822301

Gene: RYR2

Linked Data

• gnomAD v4: 1-237770818-C-T
• MyVariant Identifiers: chr1:g.237934118C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237770818C>T , CM000663.2:g.237770818C>T	GRCh38
NC_000001.10:g.237934118C>T , CM000663.1:g.237934118C>T	GRCh37
NC_000001.9:g.236000741C>T	NCBI36
NG_008799.2:g.733417C>T
NG_008799.3:g.733635C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2580C>T	ENSP00000499659.2:n.*2580C>T
ENST00000659194.3:c.11476C>T	ENSP00000499653.3:p.Leu3826=
ENST00000660292.2:c.11509C>T	ENSP00000499787.2:p.Leu3837=
ENST00000659194.2:c.3665C>T
ENST00000366574.7:c.11488C>T MANE Select	ENSP00000355533.2:p.Leu3830=
ENST00000659194.1:c.3665C>T
ENST00000660292.1:c.1541C>T
ENST00000360064.7:c.11440C>T	ENSP00000353174.7:p.Leu3814=
ENST00000366574.6:c.11488C>T	ENSP00000355533.2:p.Leu3830=
ENST00000609119.1:n.2683C>T
NM_001035.2:c.11488C>T	NP_001026.2:p.Leu3830=
XM_006711802.2:c.11542C>T	XP_006711865.1:p.Leu3848=
XM_006711803.2:c.11539C>T	XP_006711866.1:p.Leu3847=
XM_006711804.2:c.11518C>T	XP_006711867.1:p.Leu3840=
XM_006711805.2:c.11512C>T	XP_006711868.1:p.Leu3838=
XM_006711806.2:c.11506C>T	XP_006711869.1:p.Leu3836=
XM_006711807.2:c.11482C>T	XP_006711870.1:p.Leu3828=
XM_006711808.2:c.11305C>T	XP_006711871.1:p.Leu3769=
XM_006711810.2:c.11449C>T	XP_006711873.1:p.Leu3817=
XM_006711802.3:c.11542C>T	XP_006711865.1:p.Leu3848=
XM_006711803.3:c.11539C>T	XP_006711866.1:p.Leu3847=
XM_006711804.3:c.11518C>T	XP_006711867.1:p.Leu3840=
XM_006711805.3:c.11512C>T	XP_006711868.1:p.Leu3838=
XM_006711806.3:c.11506C>T	XP_006711869.1:p.Leu3836=
XM_006711807.3:c.11482C>T	XP_006711870.1:p.Leu3828=
XM_006711808.3:c.11305C>T	XP_006711871.1:p.Leu3769=
XM_006711810.3:c.11449C>T	XP_006711873.1:p.Leu3817=
XM_017002028.1:c.11521C>T	XP_016857517.1:p.Leu3841=
NM_001035.3:c.11488C>T MANE Select	NP_001026.2:p.Leu3830=