Canonical Allele Identifier: CA345424127

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972231G>T (hg19) ; chr1:g.237808931G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808931G>T , CM000663.2:g.237808931G>T	GRCh38
NC_000001.10:g.237972231G>T , CM000663.1:g.237972231G>T	GRCh37
NC_000001.9:g.236038854G>T	NCBI36
NG_008799.2:g.771530G>T
NG_008799.3:g.771748G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5421G>T	ENSP00000499659.2:n.*5421G>T
ENST00000659194.3:c.14311G>T	ENSP00000499653.3:p.Val4771Phe
ENST00000660292.2:c.14350G>T	ENSP00000499787.2:p.Val4784Phe
ENST00000659194.2:c.6500G>T
ENST00000366574.7:c.14329G>T MANE Select	ENSP00000355533.2:p.Val4777Phe
ENST00000360064.7:c.14278G>T	ENSP00000353174.7:p.Val4760Phe
ENST00000366574.6:c.14329G>T	ENSP00000355533.2:p.Val4777Phe
ENST00000608590.5:n.840G>T
NM_001035.2:c.14329G>T	NP_001026.2:p.Val4777Phe
XM_006711802.2:c.14383G>T	XP_006711865.1:p.Val4795Phe
XM_006711803.2:c.14380G>T	XP_006711866.1:p.Val4794Phe
XM_006711804.2:c.14359G>T	XP_006711867.1:p.Val4787Phe
XM_006711805.2:c.14353G>T	XP_006711868.1:p.Val4785Phe
XM_006711806.2:c.14347G>T	XP_006711869.1:p.Val4783Phe
XM_006711807.2:c.14323G>T	XP_006711870.1:p.Val4775Phe
XM_006711808.2:c.14146G>T	XP_006711871.1:p.Val4716Phe
XM_006711810.2:c.14290G>T	XP_006711873.1:p.Val4764Phe
XM_006711802.3:c.14383G>T	XP_006711865.1:p.Val4795Phe
XM_006711803.3:c.14380G>T	XP_006711866.1:p.Val4794Phe
XM_006711804.3:c.14359G>T	XP_006711867.1:p.Val4787Phe
XM_006711805.3:c.14353G>T	XP_006711868.1:p.Val4785Phe
XM_006711806.3:c.14347G>T	XP_006711869.1:p.Val4783Phe
XM_006711807.3:c.14323G>T	XP_006711870.1:p.Val4775Phe
XM_006711808.3:c.14146G>T	XP_006711871.1:p.Val4716Phe
XM_006711810.3:c.14290G>T	XP_006711873.1:p.Val4764Phe
XM_017002028.1:c.14362G>T	XP_016857517.1:p.Val4788Phe
NM_001035.3:c.14329G>T MANE Select	NP_001026.2:p.Val4777Phe