Canonical Allele Identifier: CA345413552

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947538G>T (hg19) ; chr1:g.237784238G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784238G>T , CM000663.2:g.237784238G>T	GRCh38
NC_000001.10:g.237947538G>T , CM000663.1:g.237947538G>T	GRCh37
NC_000001.9:g.236014161G>T	NCBI36
NG_008799.2:g.746837G>T
NG_008799.3:g.747055G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3618G>T	ENSP00000499659.2:n.*3618G>T
ENST00000659194.3:c.12514G>T	ENSP00000499653.3:p.Val4172Leu
ENST00000660292.2:c.12547G>T	ENSP00000499787.2:p.Val4183Leu
ENST00000659194.2:c.4703G>T
ENST00000366574.7:c.12526G>T MANE Select	ENSP00000355533.2:p.Val4176Leu
ENST00000659194.1:c.4703G>T
ENST00000660292.1:c.2579G>T
ENST00000360064.7:c.12478G>T	ENSP00000353174.7:p.Val4160Leu
ENST00000366574.6:c.12526G>T	ENSP00000355533.2:p.Val4176Leu
ENST00000609119.1:n.3721G>T
NM_001035.2:c.12526G>T	NP_001026.2:p.Val4176Leu
XM_006711802.2:c.12580G>T	XP_006711865.1:p.Val4194Leu
XM_006711803.2:c.12577G>T	XP_006711866.1:p.Val4193Leu
XM_006711804.2:c.12556G>T	XP_006711867.1:p.Val4186Leu
XM_006711805.2:c.12550G>T	XP_006711868.1:p.Val4184Leu
XM_006711806.2:c.12544G>T	XP_006711869.1:p.Val4182Leu
XM_006711807.2:c.12520G>T	XP_006711870.1:p.Val4174Leu
XM_006711808.2:c.12343G>T	XP_006711871.1:p.Val4115Leu
XM_006711810.2:c.12487G>T	XP_006711873.1:p.Val4163Leu
XM_006711802.3:c.12580G>T	XP_006711865.1:p.Val4194Leu
XM_006711803.3:c.12577G>T	XP_006711866.1:p.Val4193Leu
XM_006711804.3:c.12556G>T	XP_006711867.1:p.Val4186Leu
XM_006711805.3:c.12550G>T	XP_006711868.1:p.Val4184Leu
XM_006711806.3:c.12544G>T	XP_006711869.1:p.Val4182Leu
XM_006711807.3:c.12520G>T	XP_006711870.1:p.Val4174Leu
XM_006711808.3:c.12343G>T	XP_006711871.1:p.Val4115Leu
XM_006711810.3:c.12487G>T	XP_006711873.1:p.Val4163Leu
XM_017002028.1:c.12559G>T	XP_016857517.1:p.Val4187Leu
NM_001035.3:c.12526G>T MANE Select	NP_001026.2:p.Val4176Leu