Canonical Allele Identifier: CA424032127

Gene: RYR2

Linked Data

• gnomAD v4: 1-237784015-T-C
• MyVariant Identifiers: chr1:g.237947315T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784015T>C , CM000663.2:g.237784015T>C	GRCh38
NC_000001.10:g.237947315T>C , CM000663.1:g.237947315T>C	GRCh37
NC_000001.9:g.236013938T>C	NCBI36
NG_008799.2:g.746614T>C
NG_008799.3:g.746832T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3395T>C	ENSP00000499659.2:n.*3395T>C
ENST00000659194.3:c.12291T>C	ENSP00000499653.3:p.Leu4097=
ENST00000660292.2:c.12324T>C	ENSP00000499787.2:p.Leu4108=
ENST00000659194.2:c.4480T>C
ENST00000366574.7:c.12303T>C MANE Select	ENSP00000355533.2:p.Leu4101=
ENST00000659194.1:c.4480T>C
ENST00000660292.1:c.2356T>C
ENST00000360064.7:c.12255T>C	ENSP00000353174.7:p.Leu4085=
ENST00000366574.6:c.12303T>C	ENSP00000355533.2:p.Leu4101=
ENST00000609119.1:n.3498T>C
NM_001035.2:c.12303T>C	NP_001026.2:p.Leu4101=
XM_006711802.2:c.12357T>C	XP_006711865.1:p.Leu4119=
XM_006711803.2:c.12354T>C	XP_006711866.1:p.Leu4118=
XM_006711804.2:c.12333T>C	XP_006711867.1:p.Leu4111=
XM_006711805.2:c.12327T>C	XP_006711868.1:p.Leu4109=
XM_006711806.2:c.12321T>C	XP_006711869.1:p.Leu4107=
XM_006711807.2:c.12297T>C	XP_006711870.1:p.Leu4099=
XM_006711808.2:c.12120T>C	XP_006711871.1:p.Leu4040=
XM_006711810.2:c.12264T>C	XP_006711873.1:p.Leu4088=
XM_006711802.3:c.12357T>C	XP_006711865.1:p.Leu4119=
XM_006711803.3:c.12354T>C	XP_006711866.1:p.Leu4118=
XM_006711804.3:c.12333T>C	XP_006711867.1:p.Leu4111=
XM_006711805.3:c.12327T>C	XP_006711868.1:p.Leu4109=
XM_006711806.3:c.12321T>C	XP_006711869.1:p.Leu4107=
XM_006711807.3:c.12297T>C	XP_006711870.1:p.Leu4099=
XM_006711808.3:c.12120T>C	XP_006711871.1:p.Leu4040=
XM_006711810.3:c.12264T>C	XP_006711873.1:p.Leu4088=
XM_017002028.1:c.12336T>C	XP_016857517.1:p.Leu4112=
NM_001035.3:c.12303T>C MANE Select	NP_001026.2:p.Leu4101=