Canonical Allele Identifier: CA345424100

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972229T>A (hg19) ; chr1:g.237808929T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808929T>A , CM000663.2:g.237808929T>A	GRCh38
NC_000001.10:g.237972229T>A , CM000663.1:g.237972229T>A	GRCh37
NC_000001.9:g.236038852T>A	NCBI36
NG_008799.2:g.771528T>A
NG_008799.3:g.771746T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*5419T>A	ENSP00000499659.2:n.*5419T>A
ENST00000659194.3:c.14309T>A	ENSP00000499653.3:p.Val4770Asp
ENST00000660292.2:c.14348T>A	ENSP00000499787.2:p.Val4783Asp
ENST00000659194.2:c.6498T>A
ENST00000366574.7:c.14327T>A MANE Select	ENSP00000355533.2:p.Val4776Asp
ENST00000360064.7:c.14276T>A	ENSP00000353174.7:p.Val4759Asp
ENST00000366574.6:c.14327T>A	ENSP00000355533.2:p.Val4776Asp
ENST00000608590.5:n.838T>A
NM_001035.2:c.14327T>A	NP_001026.2:p.Val4776Asp
XM_006711802.2:c.14381T>A	XP_006711865.1:p.Val4794Asp
XM_006711803.2:c.14378T>A	XP_006711866.1:p.Val4793Asp
XM_006711804.2:c.14357T>A	XP_006711867.1:p.Val4786Asp
XM_006711805.2:c.14351T>A	XP_006711868.1:p.Val4784Asp
XM_006711806.2:c.14345T>A	XP_006711869.1:p.Val4782Asp
XM_006711807.2:c.14321T>A	XP_006711870.1:p.Val4774Asp
XM_006711808.2:c.14144T>A	XP_006711871.1:p.Val4715Asp
XM_006711810.2:c.14288T>A	XP_006711873.1:p.Val4763Asp
XM_006711802.3:c.14381T>A	XP_006711865.1:p.Val4794Asp
XM_006711803.3:c.14378T>A	XP_006711866.1:p.Val4793Asp
XM_006711804.3:c.14357T>A	XP_006711867.1:p.Val4786Asp
XM_006711805.3:c.14351T>A	XP_006711868.1:p.Val4784Asp
XM_006711806.3:c.14345T>A	XP_006711869.1:p.Val4782Asp
XM_006711807.3:c.14321T>A	XP_006711870.1:p.Val4774Asp
XM_006711808.3:c.14144T>A	XP_006711871.1:p.Val4715Asp
XM_006711810.3:c.14288T>A	XP_006711873.1:p.Val4763Asp
XM_017002028.1:c.14360T>A	XP_016857517.1:p.Val4787Asp
NM_001035.3:c.14327T>A MANE Select	NP_001026.2:p.Val4776Asp