Canonical Allele Identifier: CA2651217351

Gene: RYR2

Linked Data

• gnomAD v4: 1-237828319-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237828319G>C , CM000663.2:g.237828319G>C	GRCh38
NC_000001.10:g.237991619G>C , CM000663.1:g.237991619G>C	GRCh37
NC_000001.9:g.236058242G>C	NCBI36
NG_008799.2:g.790918G>C
NG_008799.3:g.791136G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5683-62G>C	ENSP00000499659.2:n.*5683-62G>C
ENST00000659194.3:c.14573-62G>C	ENSP00000499653.3:n.14573-62G>C
ENST00000660292.2:c.14612-62G>C	ENSP00000499787.2:n.14612-62G>C
ENST00000659194.2:c.6762-62G>C
ENST00000366574.7:c.14591-62G>C MANE Select	ENSP00000355533.2:n.14591-62G>C
ENST00000360064.7:c.14540-62G>C	ENSP00000353174.7:n.14540-62G>C
ENST00000366574.6:c.14591-62G>C	ENSP00000355533.2:n.14591-62G>C
ENST00000608590.5:n.1102-62G>C
NM_001035.2:c.14591-62G>C	NP_001026.2:n.14591-62G>C
XM_006711802.2:c.14645-62G>C	XP_006711865.1:n.14645-62G>C
XM_006711803.2:c.14642-62G>C	XP_006711866.1:n.14642-62G>C
XM_006711804.2:c.14621-62G>C	XP_006711867.1:n.14621-62G>C
XM_006711805.2:c.14615-62G>C	XP_006711868.1:n.14615-62G>C
XM_006711806.2:c.14609-62G>C	XP_006711869.1:n.14609-62G>C
XM_006711807.2:c.14585-62G>C	XP_006711870.1:n.14585-62G>C
XM_006711808.2:c.14408-62G>C	XP_006711871.1:n.14408-62G>C
XM_006711810.2:c.14552-62G>C	XP_006711873.1:n.14552-62G>C
XM_006711802.3:c.14645-62G>C	XP_006711865.1:n.14645-62G>C
XM_006711803.3:c.14642-62G>C	XP_006711866.1:n.14642-62G>C
XM_006711804.3:c.14621-62G>C	XP_006711867.1:n.14621-62G>C
XM_006711805.3:c.14615-62G>C	XP_006711868.1:n.14615-62G>C
XM_006711806.3:c.14609-62G>C	XP_006711869.1:n.14609-62G>C
XM_006711807.3:c.14585-62G>C	XP_006711870.1:n.14585-62G>C
XM_006711808.3:c.14408-62G>C	XP_006711871.1:n.14408-62G>C
XM_006711810.3:c.14552-62G>C	XP_006711873.1:n.14552-62G>C
XM_017002028.1:c.14624-62G>C	XP_016857517.1:n.14624-62G>C
NM_001035.3:c.14591-62G>C MANE Select	NP_001026.2:n.14591-62G>C