Canonical Allele Identifier: CA382762801

Gene: FXYD2 FXYD6-FXYD2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117822424C>A , CM000673.2:g.117822424C>A	GRCh38
NC_000011.9:g.117693139C>A , CM000673.1:g.117693139C>A	GRCh37
NC_000011.8:g.117198349C>A	NCBI36
NG_011543.1:g.10669G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001680.5:c.121G>T (FXYD2) MANE Select	NP_001671.2:p.Gly41Trp
ENST00000292079.7:c.121G>T (FXYD2) MANE Select	ENSP00000292079.2:p.Gly41Trp
NM_001204268.1:c.355G>T (FXYD6-FXYD2)	NP_001191197.1:p.Gly119Trp
NM_001204268.2:c.355G>T (FXYD6-FXYD2)	NP_001191197.1:p.Gly119Trp
NM_001204268.3:c.355G>T (FXYD6-FXYD2)	NP_001191197.1:p.Gly119Trp
NM_001243598.2:c.311+255G>T (FXYD6-FXYD2)	NP_001230527.1:n.311+255G>T
NM_001243598.3:c.311+255G>T (FXYD6-FXYD2)	NP_001230527.1:n.311+255G>T
NM_001243598.4:c.311+255G>T (FXYD6-FXYD2)	NP_001230527.1:n.311+255G>T
NM_001680.4:c.121G>T (FXYD2)	NP_001671.2:p.Gly41Trp
NM_021603.3:c.115G>T (FXYD2)	NP_067614.1:p.Gly39Trp
NM_021603.4:c.115G>T (FXYD2)	NP_067614.1:p.Gly39Trp
ENST00000260287.2:c.115G>T (FXYD2)	ENSP00000260287.2:p.Gly39Trp
ENST00000292079.6:c.121G>T (FXYD2)	ENSP00000292079.2:p.Gly41Trp
ENST00000317594.6:n.385G>T (FXYD2)
ENST00000528014.5:c.115G>T (FXYD2)	ENSP00000432430.1:p.Gly39Trp
ENST00000532119.5:c.115G>T (FXYD2)	ENSP00000436414.1:p.Gly39Trp
ENST00000532984.1:c.311+255G>T (FXYD6-FXYD2)	ENSP00000463024.1:n.311+255G>T
ENST00000533281.1:n.183G>T (FXYD2)
ENST00000534383.5:n.679G>T (FXYD2)
ENST00000614497.5:c.355G>T (FXYD6-FXYD2)	ENSP00000482442.1:p.Gly119Trp