Canonical Allele Identifier: CA345424105

Gene: RYR2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5419T>C	ENSP00000499659.2:n.*5419T>C
ENST00000659194.3:c.14309T>C	ENSP00000499653.3:p.Val4770Ala
ENST00000660292.2:c.14348T>C	ENSP00000499787.2:p.Val4783Ala
ENST00000659194.2:c.6498T>C
ENST00000366574.7:c.14327T>C MANE Select	ENSP00000355533.2:p.Val4776Ala
ENST00000360064.7:c.14276T>C	ENSP00000353174.7:p.Val4759Ala
ENST00000366574.6:c.14327T>C	ENSP00000355533.2:p.Val4776Ala
ENST00000608590.5:n.838T>C
NM_001035.2:c.14327T>C	NP_001026.2:p.Val4776Ala
XM_006711802.2:c.14381T>C	XP_006711865.1:p.Val4794Ala
XM_006711803.2:c.14378T>C	XP_006711866.1:p.Val4793Ala
XM_006711804.2:c.14357T>C	XP_006711867.1:p.Val4786Ala
XM_006711805.2:c.14351T>C	XP_006711868.1:p.Val4784Ala
XM_006711806.2:c.14345T>C	XP_006711869.1:p.Val4782Ala
XM_006711807.2:c.14321T>C	XP_006711870.1:p.Val4774Ala
XM_006711808.2:c.14144T>C	XP_006711871.1:p.Val4715Ala
XM_006711810.2:c.14288T>C	XP_006711873.1:p.Val4763Ala
XM_006711802.3:c.14381T>C	XP_006711865.1:p.Val4794Ala
XM_006711803.3:c.14378T>C	XP_006711866.1:p.Val4793Ala
XM_006711804.3:c.14357T>C	XP_006711867.1:p.Val4786Ala
XM_006711805.3:c.14351T>C	XP_006711868.1:p.Val4784Ala
XM_006711806.3:c.14345T>C	XP_006711869.1:p.Val4782Ala
XM_006711807.3:c.14321T>C	XP_006711870.1:p.Val4774Ala
XM_006711808.3:c.14144T>C	XP_006711871.1:p.Val4715Ala
XM_006711810.3:c.14288T>C	XP_006711873.1:p.Val4763Ala
XM_017002028.1:c.14360T>C	XP_016857517.1:p.Val4787Ala
NM_001035.3:c.14327T>C MANE Select	NP_001026.2:p.Val4776Ala