Canonical Allele Identifier: CA10337191

Gene: GYG2

Linked Data

• ClinVar Variation Id: 379983
• ClinVar RCV Id: RCV000441321 ; RCV002062279
• dbSNP Id: rs2306735
• ExAC: X:2779570 A / G
• gnomAD v2: X-2779570-A-G
• gnomAD v3: X-2861529-A-G
• gnomAD v4: X-2861529-A-G
• MyVariant Identifiers: chrX:g.2779570A>G (hg19) ; chrX:g.2861529A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.2861529A>G , CM000685.2:g.2861529A>G	GRCh38
NC_000023.10:g.2779570A>G , CM000685.1:g.2779570A>G	GRCh37
NC_000023.9:g.2789570A>G	NCBI36
NG_021257.1:g.37708A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398806.8:c.845A>G MANE Select	ENSP00000381786.3:p.His282Arg
ENST00000639373.1:c.938A>G	ENSP00000491962.1:p.His313Arg
ENST00000353656.10:c.938A>G	ENSP00000487294.1:p.His313Arg
ENST00000381157.2:c.393A>G
ENST00000381161.5:n.893A>G
ENST00000381163.7:c.938A>G	ENSP00000370555.3:p.His313Arg
ENST00000398806.7:c.845A>G	ENSP00000381786.3:p.His282Arg
ENST00000453106.1:n.616A>G
NM_001079855.1:c.845A>G	NP_001073324.1:p.His282Arg
NM_001184702.1:c.845A>G	NP_001171631.1:p.His282Arg
NM_001184703.1:c.938A>G	NP_001171632.1:p.His313Arg
NM_001184704.1:c.380A>G	NP_001171633.1:p.His127Arg
NM_003918.2:c.938A>G	NP_003909.2:p.His313Arg
XM_006724521.2:c.938A>G	XP_006724584.1:p.His313Arg
XM_011545600.1:c.845A>G	XP_011543902.1:p.His282Arg
XM_011545601.1:c.932A>G	XP_011543903.1:p.His311Arg
XM_011545602.1:c.380A>G	XP_011543904.1:p.His127Arg
XM_011545600.2:c.845A>G	XP_011543902.1:p.His282Arg
XM_017029927.1:c.938A>G	XP_016885416.1:p.His313Arg
XM_017029928.1:c.938A>G	XP_016885417.1:p.His313Arg
XM_017029929.1:c.938A>G	XP_016885418.1:p.His313Arg
XM_017029930.1:c.845A>G	XP_016885419.1:p.His282Arg
XM_017029931.1:c.845A>G	XP_016885420.1:p.His282Arg
NM_001079855.2:c.845A>G MANE Select	NP_001073324.1:p.His282Arg
NM_001184702.2:c.845A>G	NP_001171631.1:p.His282Arg
NM_001184703.2:c.938A>G	NP_001171632.1:p.His313Arg
NM_001184704.2:c.380A>G	NP_001171633.1:p.His127Arg
NM_003918.3:c.938A>G	NP_003909.2:p.His313Arg