Canonical Allele Identifier: CA345408606

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237870373G>C (hg19) ; chr1:g.237707073G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237707073G>C , CM000663.2:g.237707073G>C	GRCh38
NC_000001.10:g.237870373G>C , CM000663.1:g.237870373G>C	GRCh37
NC_000001.9:g.235936996G>C	NCBI36
NG_008799.2:g.669672G>C
NG_008799.3:g.669890G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*740G>C	ENSP00000499659.2:n.*740G>C
ENST00000659194.3:c.9705G>C	ENSP00000499653.3:p.Met3235Ile
ENST00000660292.2:c.9705G>C	ENSP00000499787.2:p.Met3235Ile
ENST00000659194.2:c.1894G>C
ENST00000366574.7:c.9705G>C MANE Select	ENSP00000355533.2:p.Met3235Ile
ENST00000659194.1:c.1894G>C
ENST00000360064.7:c.9657G>C	ENSP00000353174.7:p.Met3219Ile
ENST00000366574.6:c.9705G>C	ENSP00000355533.2:p.Met3235Ile
ENST00000609119.1:n.843G>C
NM_001035.2:c.9705G>C	NP_001026.2:p.Met3235Ile
XM_006711802.2:c.9735G>C	XP_006711865.1:p.Met3245Ile
XM_006711803.2:c.9732G>C	XP_006711866.1:p.Met3244Ile
XM_006711804.2:c.9735G>C	XP_006711867.1:p.Met3245Ile
XM_006711805.2:c.9705G>C	XP_006711868.1:p.Met3235Ile
XM_006711806.2:c.9735G>C	XP_006711869.1:p.Met3245Ile
XM_006711807.2:c.9735G>C	XP_006711870.1:p.Met3245Ile
XM_006711808.2:c.9498G>C	XP_006711871.1:p.Met3166Ile
XM_006711810.2:c.9702G>C	XP_006711873.1:p.Met3234Ile
XM_006711802.3:c.9735G>C	XP_006711865.1:p.Met3245Ile
XM_006711803.3:c.9732G>C	XP_006711866.1:p.Met3244Ile
XM_006711804.3:c.9735G>C	XP_006711867.1:p.Met3245Ile
XM_006711805.3:c.9705G>C	XP_006711868.1:p.Met3235Ile
XM_006711806.3:c.9735G>C	XP_006711869.1:p.Met3245Ile
XM_006711807.3:c.9735G>C	XP_006711870.1:p.Met3245Ile
XM_006711808.3:c.9498G>C	XP_006711871.1:p.Met3166Ile
XM_006711810.3:c.9702G>C	XP_006711873.1:p.Met3234Ile
XM_017002028.1:c.9714G>C	XP_016857517.1:p.Met3238Ile
NM_001035.3:c.9705G>C MANE Select	NP_001026.2:p.Met3235Ile