Canonical Allele Identifier: CA10637658

Gene: FXYD2 FXYD6-FXYD2

Linked Data

• ClinVar Variation Id: 302514
• ClinVar RCV Id: RCV000262669
• dbSNP Id: rs886047704
• gnomAD v4: 11-117820191-G-A
• MyVariant Identifiers: chr11:g.117690906G>A (hg19) ; chr11:g.117820191G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117820191G>A , CM000673.2:g.117820191G>A	GRCh38
NC_000011.9:g.117690906G>A , CM000673.1:g.117690906G>A	GRCh37
NC_000011.8:g.117196116G>A	NCBI36
NG_011543.1:g.12902C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292079.7:c.*188C>T (FXYD2) MANE Select	ENSP00000292079.2:n.*188C>T
ENST00000260287.2:c.*188C>T (FXYD2)	ENSP00000260287.2:n.*188C>T
ENST00000292079.6:c.*188C>T (FXYD2)	ENSP00000292079.2:n.*188C>T
ENST00000528014.5:c.*188C>T (FXYD2)	ENSP00000432430.1:n.*188C>T
ENST00000532119.5:c.*6+475C>T (FXYD2)	ENSP00000436414.1:n.*6+475C>T
ENST00000532984.1:c.*222C>T (FXYD6-FXYD2)	ENSP00000463024.1:n.*222C>T
ENST00000534383.5:n.947C>T (FXYD2)
NM_001204268.1:c.*188C>T (FXYD6-FXYD2)	NP_001191197.1:n.*188C>T
NM_001243598.2:c.*222C>T (FXYD6-FXYD2)	NP_001230527.1:n.*222C>T
NM_001680.4:c.*188C>T (FXYD2)	NP_001671.2:n.*188C>T
NM_021603.3:c.*188C>T (FXYD2)	NP_067614.1:n.*188C>T
NM_001680.5:c.*188C>T (FXYD2) MANE Select	NP_001671.2:n.*188C>T
NM_001204268.2:c.*188C>T (FXYD6-FXYD2)	NP_001191197.1:n.*188C>T
NM_001243598.3:c.*222C>T (FXYD6-FXYD2)	NP_001230527.1:n.*222C>T
NM_021603.4:c.*188C>T (FXYD2)	NP_067614.1:n.*188C>T
NM_001204268.3:c.*188C>T (FXYD6-FXYD2)	NP_001191197.1:n.*188C>T
NM_001243598.4:c.*222C>T (FXYD6-FXYD2)	NP_001230527.1:n.*222C>T