Canonical Allele Identifier: CA345424240

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972258T>C (hg19) ; chr1:g.237808958T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808958T>C , CM000663.2:g.237808958T>C	GRCh38
NC_000001.10:g.237972258T>C , CM000663.1:g.237972258T>C	GRCh37
NC_000001.9:g.236038881T>C	NCBI36
NG_008799.2:g.771557T>C
NG_008799.3:g.771775T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5448T>C	ENSP00000499659.2:n.*5448T>C
ENST00000659194.3:c.14338T>C	ENSP00000499653.3:p.Phe4780Leu
ENST00000660292.2:c.14377T>C	ENSP00000499787.2:p.Phe4793Leu
ENST00000659194.2:c.6527T>C
ENST00000366574.7:c.14356T>C MANE Select	ENSP00000355533.2:p.Phe4786Leu
ENST00000360064.7:c.14305T>C	ENSP00000353174.7:p.Phe4769Leu
ENST00000366574.6:c.14356T>C	ENSP00000355533.2:p.Phe4786Leu
ENST00000608590.5:n.867T>C
NM_001035.2:c.14356T>C	NP_001026.2:p.Phe4786Leu
XM_006711802.2:c.14410T>C	XP_006711865.1:p.Phe4804Leu
XM_006711803.2:c.14407T>C	XP_006711866.1:p.Phe4803Leu
XM_006711804.2:c.14386T>C	XP_006711867.1:p.Phe4796Leu
XM_006711805.2:c.14380T>C	XP_006711868.1:p.Phe4794Leu
XM_006711806.2:c.14374T>C	XP_006711869.1:p.Phe4792Leu
XM_006711807.2:c.14350T>C	XP_006711870.1:p.Phe4784Leu
XM_006711808.2:c.14173T>C	XP_006711871.1:p.Phe4725Leu
XM_006711810.2:c.14317T>C	XP_006711873.1:p.Phe4773Leu
XM_006711802.3:c.14410T>C	XP_006711865.1:p.Phe4804Leu
XM_006711803.3:c.14407T>C	XP_006711866.1:p.Phe4803Leu
XM_006711804.3:c.14386T>C	XP_006711867.1:p.Phe4796Leu
XM_006711805.3:c.14380T>C	XP_006711868.1:p.Phe4794Leu
XM_006711806.3:c.14374T>C	XP_006711869.1:p.Phe4792Leu
XM_006711807.3:c.14350T>C	XP_006711870.1:p.Phe4784Leu
XM_006711808.3:c.14173T>C	XP_006711871.1:p.Phe4725Leu
XM_006711810.3:c.14317T>C	XP_006711873.1:p.Phe4773Leu
XM_017002028.1:c.14389T>C	XP_016857517.1:p.Phe4797Leu
NM_001035.3:c.14356T>C MANE Select	NP_001026.2:p.Phe4786Leu