Canonical Allele Identifier: CA424051705

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972230T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808930T>C , CM000663.2:g.237808930T>C	GRCh38
NC_000001.10:g.237972230T>C , CM000663.1:g.237972230T>C	GRCh37
NC_000001.9:g.236038853T>C	NCBI36
NG_008799.2:g.771529T>C
NG_008799.3:g.771747T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5420T>C	ENSP00000499659.2:n.*5420T>C
ENST00000659194.3:c.14310T>C	ENSP00000499653.3:p.Val4770=
ENST00000660292.2:c.14349T>C	ENSP00000499787.2:p.Val4783=
ENST00000659194.2:c.6499T>C
ENST00000366574.7:c.14328T>C MANE Select	ENSP00000355533.2:p.Val4776=
ENST00000360064.7:c.14277T>C	ENSP00000353174.7:p.Val4759=
ENST00000366574.6:c.14328T>C	ENSP00000355533.2:p.Val4776=
ENST00000608590.5:n.839T>C
NM_001035.2:c.14328T>C	NP_001026.2:p.Val4776=
XM_006711802.2:c.14382T>C	XP_006711865.1:p.Val4794=
XM_006711803.2:c.14379T>C	XP_006711866.1:p.Val4793=
XM_006711804.2:c.14358T>C	XP_006711867.1:p.Val4786=
XM_006711805.2:c.14352T>C	XP_006711868.1:p.Val4784=
XM_006711806.2:c.14346T>C	XP_006711869.1:p.Val4782=
XM_006711807.2:c.14322T>C	XP_006711870.1:p.Val4774=
XM_006711808.2:c.14145T>C	XP_006711871.1:p.Val4715=
XM_006711810.2:c.14289T>C	XP_006711873.1:p.Val4763=
XM_006711802.3:c.14382T>C	XP_006711865.1:p.Val4794=
XM_006711803.3:c.14379T>C	XP_006711866.1:p.Val4793=
XM_006711804.3:c.14358T>C	XP_006711867.1:p.Val4786=
XM_006711805.3:c.14352T>C	XP_006711868.1:p.Val4784=
XM_006711806.3:c.14346T>C	XP_006711869.1:p.Val4782=
XM_006711807.3:c.14322T>C	XP_006711870.1:p.Val4774=
XM_006711808.3:c.14145T>C	XP_006711871.1:p.Val4715=
XM_006711810.3:c.14289T>C	XP_006711873.1:p.Val4763=
XM_017002028.1:c.14361T>C	XP_016857517.1:p.Val4787=
NM_001035.3:c.14328T>C MANE Select	NP_001026.2:p.Val4776=