Canonical Allele Identifier: CA345410838

Gene: RYR2

Linked Data

• gnomAD v4: 1-237627900-T-C
• MyVariant Identifiers: chr1:g.237791200T>C (hg19) ; chr1:g.237627900T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237627900T>C , CM000663.2:g.237627900T>C	GRCh38
NC_000001.10:g.237791200T>C , CM000663.1:g.237791200T>C	GRCh37
NC_000001.9:g.235857823T>C	NCBI36
NG_008799.2:g.590499T>C
NG_008799.3:g.590717T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.6260T>C	ENSP00000499659.2:p.Leu2087Ser
ENST00000659194.3:c.6260T>C	ENSP00000499653.3:p.Leu2087Ser
ENST00000660292.2:c.6260T>C	ENSP00000499787.2:p.Leu2087Ser
ENST00000366574.7:c.6260T>C MANE Select	ENSP00000355533.2:p.Leu2087Ser
ENST00000360064.7:c.6212T>C	ENSP00000353174.7:p.Leu2071Ser
ENST00000366574.6:c.6260T>C	ENSP00000355533.2:p.Leu2087Ser
NM_001035.2:c.6260T>C	NP_001026.2:p.Leu2087Ser
XM_006711802.2:c.6290T>C	XP_006711865.1:p.Leu2097Ser
XM_006711803.2:c.6287T>C	XP_006711866.1:p.Leu2096Ser
XM_006711804.2:c.6290T>C	XP_006711867.1:p.Leu2097Ser
XM_006711805.2:c.6260T>C	XP_006711868.1:p.Leu2087Ser
XM_006711806.2:c.6290T>C	XP_006711869.1:p.Leu2097Ser
XM_006711807.2:c.6290T>C	XP_006711870.1:p.Leu2097Ser
XM_006711808.2:c.6290T>C	XP_006711871.1:p.Leu2097Ser
XM_006711809.2:c.6290T>C	XP_006711872.1:p.Leu2097Ser
XM_006711810.2:c.6257T>C	XP_006711873.1:p.Leu2086Ser
XR_949152.1:n.6571T>C
XM_006711802.3:c.6290T>C	XP_006711865.1:p.Leu2097Ser
XM_006711803.3:c.6287T>C	XP_006711866.1:p.Leu2096Ser
XM_006711804.3:c.6290T>C	XP_006711867.1:p.Leu2097Ser
XM_006711805.3:c.6260T>C	XP_006711868.1:p.Leu2087Ser
XM_006711806.3:c.6290T>C	XP_006711869.1:p.Leu2097Ser
XM_006711807.3:c.6290T>C	XP_006711870.1:p.Leu2097Ser
XM_006711808.3:c.6290T>C	XP_006711871.1:p.Leu2097Ser
XM_006711810.3:c.6257T>C	XP_006711873.1:p.Leu2086Ser
XM_017002028.1:c.6269T>C	XP_016857517.1:p.Leu2090Ser
XR_002957299.1:n.6604T>C
XR_949152.2:n.6604T>C
NM_001035.3:c.6260T>C MANE Select	NP_001026.2:p.Leu2087Ser