Canonical Allele Identifier: CA345416447

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237788030G>C , CM000663.2:g.237788030G>C	GRCh38
NC_000001.10:g.237951330G>C , CM000663.1:g.237951330G>C	GRCh37
NC_000001.9:g.236017953G>C	NCBI36
NG_008799.2:g.750629G>C
NG_008799.3:g.750847G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13371G>C MANE Select	NP_001026.2:p.Lys4457Asn
ENST00000366574.7:c.13371G>C MANE Select	ENSP00000355533.2:p.Lys4457Asn
NM_001035.2:c.13371G>C	NP_001026.2:p.Lys4457Asn
ENST00000360064.7:c.13320G>C	ENSP00000353174.7:p.Lys4440Asn
ENST00000366574.6:c.13371G>C	ENSP00000355533.2:p.Lys4457Asn
ENST00000609119.2:c.*4463G>C	ENSP00000499659.2:n.*4463G>C
ENST00000659194.2:c.5542G>C
ENST00000659194.3:c.13353G>C	ENSP00000499653.3:p.Lys4451Asn
ENST00000660292.1:c.3424G>C
ENST00000660292.2:c.13392G>C	ENSP00000499787.2:p.Lys4464Asn
XM_006711802.2:c.13425G>C	XP_006711865.1:p.Lys4475Asn
XM_006711802.3:c.13425G>C	XP_006711865.1:p.Lys4475Asn
XM_006711803.2:c.13422G>C	XP_006711866.1:p.Lys4474Asn
XM_006711803.3:c.13422G>C	XP_006711866.1:p.Lys4474Asn
XM_006711804.2:c.13401G>C	XP_006711867.1:p.Lys4467Asn
XM_006711804.3:c.13401G>C	XP_006711867.1:p.Lys4467Asn
XM_006711805.2:c.13395G>C	XP_006711868.1:p.Lys4465Asn
XM_006711805.3:c.13395G>C	XP_006711868.1:p.Lys4465Asn
XM_006711806.2:c.13389G>C	XP_006711869.1:p.Lys4463Asn
XM_006711806.3:c.13389G>C	XP_006711869.1:p.Lys4463Asn
XM_006711807.2:c.13365G>C	XP_006711870.1:p.Lys4455Asn
XM_006711807.3:c.13365G>C	XP_006711870.1:p.Lys4455Asn
XM_006711808.2:c.13188G>C	XP_006711871.1:p.Lys4396Asn
XM_006711808.3:c.13188G>C	XP_006711871.1:p.Lys4396Asn
XM_006711810.2:c.13332G>C	XP_006711873.1:p.Lys4444Asn
XM_006711810.3:c.13332G>C	XP_006711873.1:p.Lys4444Asn
XM_017002028.1:c.13404G>C	XP_016857517.1:p.Lys4468Asn