Canonical Allele Identifier: CA010712

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237648589C>T , CM000663.2:g.237648589C>T	GRCh38
NC_000001.10:g.237811889C>T , CM000663.1:g.237811889C>T	GRCh37
NC_000001.9:g.235878512C>T	NCBI36
NG_008799.2:g.611188C>T
NG_008799.3:g.611406C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.7488C>T	ENSP00000499659.2:p.Leu2496=
ENST00000659194.3:c.7488C>T	ENSP00000499653.3:p.Leu2496=
ENST00000660292.2:c.7488C>T	ENSP00000499787.2:p.Leu2496=
ENST00000366574.7:c.7488C>T MANE Select	ENSP00000355533.2:p.Leu2496=
ENST00000360064.7:c.7440C>T	ENSP00000353174.7:p.Leu2480=
ENST00000366574.6:c.7488C>T	ENSP00000355533.2:p.Leu2496=
NM_001035.2:c.7488C>T	NP_001026.2:p.Leu2496=
XM_006711802.2:c.7518C>T	XP_006711865.1:p.Leu2506=
XM_006711803.2:c.7515C>T	XP_006711866.1:p.Leu2505=
XM_006711804.2:c.7518C>T	XP_006711867.1:p.Leu2506=
XM_006711805.2:c.7488C>T	XP_006711868.1:p.Leu2496=
XM_006711806.2:c.7518C>T	XP_006711869.1:p.Leu2506=
XM_006711807.2:c.7518C>T	XP_006711870.1:p.Leu2506=
XM_006711808.2:c.7518C>T	XP_006711871.1:p.Leu2506=
XM_006711809.2:c.7518C>T	XP_006711872.1:p.Leu2506=
XM_006711810.2:c.7485C>T	XP_006711873.1:p.Leu2495=
XR_949152.1:n.7799C>T
XM_006711802.3:c.7518C>T	XP_006711865.1:p.Leu2506=
XM_006711803.3:c.7515C>T	XP_006711866.1:p.Leu2505=
XM_006711804.3:c.7518C>T	XP_006711867.1:p.Leu2506=
XM_006711805.3:c.7488C>T	XP_006711868.1:p.Leu2496=
XM_006711806.3:c.7518C>T	XP_006711869.1:p.Leu2506=
XM_006711807.3:c.7518C>T	XP_006711870.1:p.Leu2506=
XM_006711808.3:c.7518C>T	XP_006711871.1:p.Leu2506=
XM_006711810.3:c.7485C>T	XP_006711873.1:p.Leu2495=
XM_017002028.1:c.7497C>T	XP_016857517.1:p.Leu2499=
XR_002957299.1:n.7832C>T
XR_949152.2:n.7832C>T
NM_001035.3:c.7488C>T MANE Select	NP_001026.2:p.Leu2496=