Canonical Allele Identifier: CA345411179

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237832640T>C , CM000663.2:g.237832640T>C	GRCh38
NC_000001.10:g.237995940T>C , CM000663.1:g.237995940T>C	GRCh37
NC_000001.9:g.236062563T>C	NCBI36
NG_008799.2:g.795239T>C
NG_008799.3:g.795457T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14897T>C MANE Select	NP_001026.2:p.Leu4966Pro
ENST00000366574.7:c.14897T>C MANE Select	ENSP00000355533.2:p.Leu4966Pro
NM_001035.2:c.14897T>C	NP_001026.2:p.Leu4966Pro
ENST00000360064.7:c.14846T>C	ENSP00000353174.7:p.Leu4949Pro
ENST00000366574.6:c.14897T>C	ENSP00000355533.2:p.Leu4966Pro
ENST00000462585.1:n.740T>C
ENST00000608590.5:n.1307T>C
ENST00000609119.2:c.*5989T>C	ENSP00000499659.2:n.*5989T>C
ENST00000659194.2:c.7068T>C
ENST00000659194.3:c.14879T>C	ENSP00000499653.3:p.Leu4960Pro
ENST00000660292.2:c.14918T>C	ENSP00000499787.2:p.Leu4973Pro
XM_006711802.2:c.14951T>C	XP_006711865.1:p.Leu4984Pro
XM_006711802.3:c.14951T>C	XP_006711865.1:p.Leu4984Pro
XM_006711803.2:c.14948T>C	XP_006711866.1:p.Leu4983Pro
XM_006711803.3:c.14948T>C	XP_006711866.1:p.Leu4983Pro
XM_006711804.2:c.14927T>C	XP_006711867.1:p.Leu4976Pro
XM_006711804.3:c.14927T>C	XP_006711867.1:p.Leu4976Pro
XM_006711805.2:c.14921T>C	XP_006711868.1:p.Leu4974Pro
XM_006711805.3:c.14921T>C	XP_006711868.1:p.Leu4974Pro
XM_006711806.2:c.14915T>C	XP_006711869.1:p.Leu4972Pro
XM_006711806.3:c.14915T>C	XP_006711869.1:p.Leu4972Pro
XM_006711807.2:c.14891T>C	XP_006711870.1:p.Leu4964Pro
XM_006711807.3:c.14891T>C	XP_006711870.1:p.Leu4964Pro
XM_006711808.2:c.14714T>C	XP_006711871.1:p.Leu4905Pro
XM_006711808.3:c.14714T>C	XP_006711871.1:p.Leu4905Pro
XM_006711810.2:c.14858T>C	XP_006711873.1:p.Leu4953Pro
XM_006711810.3:c.14858T>C	XP_006711873.1:p.Leu4953Pro
XM_017002028.1:c.14930T>C	XP_016857517.1:p.Leu4977Pro