Canonical Allele Identifier: CA2976211253

Gene: FXYD2 FXYD6-FXYD2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117824788A>C , CM000673.2:g.117824788A>C	GRCh38
NC_000011.9:g.117695503A>C , CM000673.1:g.117695503A>C	GRCh37
NC_000011.8:g.117200713A>C	NCBI36
NG_011543.1:g.8305T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001204268.1:c.260-2071T>G (FXYD6-FXYD2)	NP_001191197.1:n.260-2071T>G
NM_001204268.2:c.260-2071T>G (FXYD6-FXYD2)	NP_001191197.1:n.260-2071T>G
NM_001204268.3:c.260-2071T>G (FXYD6-FXYD2)	NP_001191197.1:n.260-2071T>G
NM_001243598.2:c.273-2071T>G (FXYD6-FXYD2)	NP_001230527.1:n.273-2071T>G
NM_001243598.3:c.273-2071T>G (FXYD6-FXYD2)	NP_001230527.1:n.273-2071T>G
NM_001243598.4:c.273-2071T>G (FXYD6-FXYD2)	NP_001230527.1:n.273-2071T>G
NM_021603.3:c.20-2071T>G (FXYD2)	NP_067614.1:n.20-2071T>G
NM_021603.4:c.20-2071T>G (FXYD2)	NP_067614.1:n.20-2071T>G
ENST00000260287.2:c.20-2071T>G (FXYD2)	ENSP00000260287.2:n.20-2071T>G
ENST00000528014.5:c.20-2071T>G (FXYD2)	ENSP00000432430.1:n.20-2071T>G
ENST00000532119.5:c.20-2071T>G (FXYD2)	ENSP00000436414.1:n.20-2071T>G
ENST00000532984.1:c.273-2071T>G (FXYD6-FXYD2)	ENSP00000463024.1:n.273-2071T>G
ENST00000614497.5:c.260-2071T>G (FXYD6-FXYD2)	ENSP00000482442.1:n.260-2071T>G