Canonical Allele Identifier: CA345406637

Gene: RYR2

Linked Data

• gnomAD v4: 1-237770821-C-A
• MyVariant Identifiers: chr1:g.237934121C>A (hg19) ; chr1:g.237770821C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237770821C>A , CM000663.2:g.237770821C>A	GRCh38
NC_000001.10:g.237934121C>A , CM000663.1:g.237934121C>A	GRCh37
NC_000001.9:g.236000744C>A	NCBI36
NG_008799.2:g.733420C>A
NG_008799.3:g.733638C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2583C>A	ENSP00000499659.2:n.*2583C>A
ENST00000659194.3:c.11479C>A	ENSP00000499653.3:p.Gln3827Lys
ENST00000660292.2:c.11512C>A	ENSP00000499787.2:p.Gln3838Lys
ENST00000659194.2:c.3668C>A
ENST00000366574.7:c.11491C>A MANE Select	ENSP00000355533.2:p.Gln3831Lys
ENST00000659194.1:c.3668C>A
ENST00000660292.1:c.1544C>A
ENST00000360064.7:c.11443C>A	ENSP00000353174.7:p.Gln3815Lys
ENST00000366574.6:c.11491C>A	ENSP00000355533.2:p.Gln3831Lys
ENST00000609119.1:n.2686C>A
NM_001035.2:c.11491C>A	NP_001026.2:p.Gln3831Lys
XM_006711802.2:c.11545C>A	XP_006711865.1:p.Gln3849Lys
XM_006711803.2:c.11542C>A	XP_006711866.1:p.Gln3848Lys
XM_006711804.2:c.11521C>A	XP_006711867.1:p.Gln3841Lys
XM_006711805.2:c.11515C>A	XP_006711868.1:p.Gln3839Lys
XM_006711806.2:c.11509C>A	XP_006711869.1:p.Gln3837Lys
XM_006711807.2:c.11485C>A	XP_006711870.1:p.Gln3829Lys
XM_006711808.2:c.11308C>A	XP_006711871.1:p.Gln3770Lys
XM_006711810.2:c.11452C>A	XP_006711873.1:p.Gln3818Lys
XM_006711802.3:c.11545C>A	XP_006711865.1:p.Gln3849Lys
XM_006711803.3:c.11542C>A	XP_006711866.1:p.Gln3848Lys
XM_006711804.3:c.11521C>A	XP_006711867.1:p.Gln3841Lys
XM_006711805.3:c.11515C>A	XP_006711868.1:p.Gln3839Lys
XM_006711806.3:c.11509C>A	XP_006711869.1:p.Gln3837Lys
XM_006711807.3:c.11485C>A	XP_006711870.1:p.Gln3829Lys
XM_006711808.3:c.11308C>A	XP_006711871.1:p.Gln3770Lys
XM_006711810.3:c.11452C>A	XP_006711873.1:p.Gln3818Lys
XM_017002028.1:c.11524C>A	XP_016857517.1:p.Gln3842Lys
NM_001035.3:c.11491C>A MANE Select	NP_001026.2:p.Gln3831Lys