Canonical Allele Identifier: CA006541

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237709102T>C , CM000663.2:g.237709102T>C	GRCh38
NC_000001.10:g.237872402T>C , CM000663.1:g.237872402T>C	GRCh37
NC_000001.9:g.235939025T>C	NCBI36
NG_008799.2:g.671701T>C
NG_008799.3:g.671919T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*1177+4T>C	ENSP00000499659.2:n.*1177+4T>C
ENST00000659194.3:c.10142+4T>C	ENSP00000499653.3:n.10142+4T>C
ENST00000660292.2:c.10142+4T>C	ENSP00000499787.2:n.10142+4T>C
ENST00000659194.2:c.2331+4T>C
ENST00000366574.7:c.10142+4T>C MANE Select	ENSP00000355533.2:n.10142+4T>C
ENST00000659194.1:c.2331+4T>C
ENST00000660292.1:c.174+4T>C
ENST00000360064.7:c.10094+4T>C	ENSP00000353174.7:n.10094+4T>C
ENST00000366574.6:c.10142+4T>C	ENSP00000355533.2:n.10142+4T>C
ENST00000609119.1:n.1280+4T>C
NM_001035.2:c.10142+4T>C	NP_001026.2:n.10142+4T>C
XM_006711802.2:c.10172+4T>C	XP_006711865.1:n.10172+4T>C
XM_006711803.2:c.10169+4T>C	XP_006711866.1:n.10169+4T>C
XM_006711804.2:c.10172+4T>C	XP_006711867.1:n.10172+4T>C
XM_006711805.2:c.10142+4T>C	XP_006711868.1:n.10142+4T>C
XM_006711806.2:c.10172+4T>C	XP_006711869.1:n.10172+4T>C
XM_006711807.2:c.10172+4T>C	XP_006711870.1:n.10172+4T>C
XM_006711808.2:c.9935+4T>C	XP_006711871.1:n.9935+4T>C
XM_006711810.2:c.10139+4T>C	XP_006711873.1:n.10139+4T>C
XM_006711802.3:c.10172+4T>C	XP_006711865.1:n.10172+4T>C
XM_006711803.3:c.10169+4T>C	XP_006711866.1:n.10169+4T>C
XM_006711804.3:c.10172+4T>C	XP_006711867.1:n.10172+4T>C
XM_006711805.3:c.10142+4T>C	XP_006711868.1:n.10142+4T>C
XM_006711806.3:c.10172+4T>C	XP_006711869.1:n.10172+4T>C
XM_006711807.3:c.10172+4T>C	XP_006711870.1:n.10172+4T>C
XM_006711808.3:c.9935+4T>C	XP_006711871.1:n.9935+4T>C
XM_006711810.3:c.10139+4T>C	XP_006711873.1:n.10139+4T>C
XM_017002028.1:c.10151+4T>C	XP_016857517.1:n.10151+4T>C
NM_001035.3:c.10142+4T>C MANE Select	NP_001026.2:n.10142+4T>C