Canonical Allele Identifier: CA6297748

Gene: FXYD2 FXYD6-FXYD2

Linked Data

• ClinVar Variation Id: 302522
• ClinVar RCV Id: RCV000394832 ; RCV000951298
• dbSNP Id: rs144519777
• ExAC: 11:117691393 C / T
• gnomAD v2: 11-117691393-C-T
• gnomAD v3: 11-117820678-C-T
• gnomAD v4: 11-117820678-C-T
• MyVariant Identifiers: chr11:g.117691393C>T (hg19) ; chr11:g.117820678C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117820678C>T , CM000673.2:g.117820678C>T	GRCh38
NC_000011.9:g.117691393C>T , CM000673.1:g.117691393C>T	GRCh37
NC_000011.8:g.117196603C>T	NCBI36
NG_011543.1:g.12415G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292079.7:c.195G>A (FXYD2) MANE Select	ENSP00000292079.2:p.Glu65=
ENST00000260287.2:c.189G>A (FXYD2)	ENSP00000260287.2:p.Glu63=
ENST00000292079.6:c.195G>A (FXYD2)	ENSP00000292079.2:p.Glu65=
ENST00000528014.5:c.189G>A (FXYD2)	ENSP00000432430.1:p.Glu63=
ENST00000532119.5:c.189G>A (FXYD2)	ENSP00000436414.1:p.Glu63=
ENST00000532984.1:c.*28G>A (FXYD6-FXYD2)	ENSP00000463024.1:n.*28G>A
ENST00000533281.1:n.257G>A (FXYD2)
ENST00000534383.5:n.753G>A (FXYD2)
ENST00000614497.5:c.429G>A (FXYD6-FXYD2)	ENSP00000482442.1:p.Glu143=
NM_001204268.1:c.429G>A (FXYD6-FXYD2)	NP_001191197.1:p.Glu143=
NM_001243598.2:c.*28G>A (FXYD6-FXYD2)	NP_001230527.1:n.*28G>A
NM_001680.4:c.195G>A (FXYD2)	NP_001671.2:p.Glu65=
NM_021603.3:c.189G>A (FXYD2)	NP_067614.1:p.Glu63=
NM_001680.5:c.195G>A (FXYD2) MANE Select	NP_001671.2:p.Glu65=
NM_001204268.2:c.429G>A (FXYD6-FXYD2)	NP_001191197.1:p.Glu143=
NM_001243598.3:c.*28G>A (FXYD6-FXYD2)	NP_001230527.1:n.*28G>A
NM_021603.4:c.189G>A (FXYD2)	NP_067614.1:p.Glu63=
NM_001204268.3:c.429G>A (FXYD6-FXYD2)	NP_001191197.1:p.Glu143=
NM_001243598.4:c.*28G>A (FXYD6-FXYD2)	NP_001230527.1:n.*28G>A