Canonical Allele Identifier: CA529567760

Gene: RYR2

Linked Data

• dbSNP Id: rs1343949226
• gnomAD v2: 1-237972366-C-T
• gnomAD v4: 1-237809066-C-T
• MyVariant Identifiers: chr1:g.237972366C>T (hg19) ; chr1:g.237809066C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809066C>T , CM000663.2:g.237809066C>T	GRCh38
NC_000001.10:g.237972366C>T , CM000663.1:g.237972366C>T	GRCh37
NC_000001.9:g.236038989C>T	NCBI36
NG_008799.2:g.771665C>T
NG_008799.3:g.771883C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5525+31C>T	ENSP00000499659.2:n.*5525+31C>T
ENST00000659194.3:c.14415+31C>T	ENSP00000499653.3:n.14415+31C>T
ENST00000660292.2:c.14454+31C>T	ENSP00000499787.2:n.14454+31C>T
ENST00000659194.2:c.6604+31C>T
ENST00000366574.7:c.14433+31C>T MANE Select	ENSP00000355533.2:n.14433+31C>T
ENST00000360064.7:c.14382+31C>T	ENSP00000353174.7:n.14382+31C>T
ENST00000366574.6:c.14433+31C>T	ENSP00000355533.2:n.14433+31C>T
ENST00000608590.5:n.944+31C>T
NM_001035.2:c.14433+31C>T	NP_001026.2:n.14433+31C>T
XM_006711802.2:c.14487+31C>T	XP_006711865.1:n.14487+31C>T
XM_006711803.2:c.14484+31C>T	XP_006711866.1:n.14484+31C>T
XM_006711804.2:c.14463+31C>T	XP_006711867.1:n.14463+31C>T
XM_006711805.2:c.14457+31C>T	XP_006711868.1:n.14457+31C>T
XM_006711806.2:c.14451+31C>T	XP_006711869.1:n.14451+31C>T
XM_006711807.2:c.14427+31C>T	XP_006711870.1:n.14427+31C>T
XM_006711808.2:c.14250+31C>T	XP_006711871.1:n.14250+31C>T
XM_006711810.2:c.14394+31C>T	XP_006711873.1:n.14394+31C>T
XM_006711802.3:c.14487+31C>T	XP_006711865.1:n.14487+31C>T
XM_006711803.3:c.14484+31C>T	XP_006711866.1:n.14484+31C>T
XM_006711804.3:c.14463+31C>T	XP_006711867.1:n.14463+31C>T
XM_006711805.3:c.14457+31C>T	XP_006711868.1:n.14457+31C>T
XM_006711806.3:c.14451+31C>T	XP_006711869.1:n.14451+31C>T
XM_006711807.3:c.14427+31C>T	XP_006711870.1:n.14427+31C>T
XM_006711808.3:c.14250+31C>T	XP_006711871.1:n.14250+31C>T
XM_006711810.3:c.14394+31C>T	XP_006711873.1:n.14394+31C>T
XM_017002028.1:c.14466+31C>T	XP_016857517.1:n.14466+31C>T
NM_001035.3:c.14433+31C>T MANE Select	NP_001026.2:n.14433+31C>T