Canonical Allele Identifier: CA39843998

Gene: RYR2

Linked Data

• dbSNP Id: rs761263202
• gnomAD v2: 1-237972392-TAAGTAA-T
• gnomAD v3: 1-237809092-TAAGTAA-T
• gnomAD v4: 1-237809092-TAAGTAA-T
• MyVariant Identifiers: chr1:g.237972393_237972398del (hg19) ; chr1:g.237809093_237809098del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809093_237809098del , CM000663.2:g.237809093_237809098del	GRCh38
NC_000001.10:g.237972393_237972398del , CM000663.1:g.237972393_237972398del	GRCh37
NC_000001.9:g.236039016_236039021del	NCBI36
NG_008799.2:g.771692_771697del
NG_008799.3:g.771910_771915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5525+58_*5525+63del	ENSP00000499659.2:n.*5525+58_*5525+63del
ENST00000659194.3:c.14415+58_14415+63del	ENSP00000499653.3:n.14415+58_14415+63del
ENST00000660292.2:c.14454+58_14454+63del	ENSP00000499787.2:n.14454+58_14454+63del
ENST00000659194.2:c.6604+58_6604+63del
ENST00000366574.7:c.14433+58_14433+63del MANE Select	ENSP00000355533.2:n.14433+58_14433+63del
ENST00000360064.7:c.14382+58_14382+63del	ENSP00000353174.7:n.14382+58_14382+63del
ENST00000366574.6:c.14433+58_14433+63del	ENSP00000355533.2:n.14433+58_14433+63del
ENST00000608590.5:n.944+58_944+63del
NM_001035.2:c.14433+58_14433+63del	NP_001026.2:n.14433+58_14433+63del
XM_006711802.2:c.14487+58_14487+63del	XP_006711865.1:n.14487+58_14487+63del
XM_006711803.2:c.14484+58_14484+63del	XP_006711866.1:n.14484+58_14484+63del
XM_006711804.2:c.14463+58_14463+63del	XP_006711867.1:n.14463+58_14463+63del
XM_006711805.2:c.14457+58_14457+63del	XP_006711868.1:n.14457+58_14457+63del
XM_006711806.2:c.14451+58_14451+63del	XP_006711869.1:n.14451+58_14451+63del
XM_006711807.2:c.14427+58_14427+63del	XP_006711870.1:n.14427+58_14427+63del
XM_006711808.2:c.14250+58_14250+63del	XP_006711871.1:n.14250+58_14250+63del
XM_006711810.2:c.14394+58_14394+63del	XP_006711873.1:n.14394+58_14394+63del
XM_006711802.3:c.14487+58_14487+63del	XP_006711865.1:n.14487+58_14487+63del
XM_006711803.3:c.14484+58_14484+63del	XP_006711866.1:n.14484+58_14484+63del
XM_006711804.3:c.14463+58_14463+63del	XP_006711867.1:n.14463+58_14463+63del
XM_006711805.3:c.14457+58_14457+63del	XP_006711868.1:n.14457+58_14457+63del
XM_006711806.3:c.14451+58_14451+63del	XP_006711869.1:n.14451+58_14451+63del
XM_006711807.3:c.14427+58_14427+63del	XP_006711870.1:n.14427+58_14427+63del
XM_006711808.3:c.14250+58_14250+63del	XP_006711871.1:n.14250+58_14250+63del
XM_006711810.3:c.14394+58_14394+63del	XP_006711873.1:n.14394+58_14394+63del
XM_017002028.1:c.14466+58_14466+63del	XP_016857517.1:n.14466+58_14466+63del
NM_001035.3:c.14433+58_14433+63del MANE Select	NP_001026.2:n.14433+58_14433+63del