Canonical Allele Identifier: CA10629873

Gene: FXYD2 FXYD6-FXYD2

Linked Data

• ClinVar Variation Id: 302516
• ClinVar RCV Id: RCV000372538
• dbSNP Id: rs756608243
• gnomAD v2: 11-117690970-A-T
• gnomAD v3: 11-117820255-A-T
• gnomAD v4: 11-117820255-A-T
• MyVariant Identifiers: chr11:g.117690970A>T (hg19) ; chr11:g.117820255A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117820255A>T , CM000673.2:g.117820255A>T	GRCh38
NC_000011.9:g.117690970A>T , CM000673.1:g.117690970A>T	GRCh37
NC_000011.8:g.117196180A>T	NCBI36
NG_011543.1:g.12838T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000292079.7:c.*124T>A (FXYD2) MANE Select	ENSP00000292079.2:n.*124T>A
ENST00000260287.2:c.*124T>A (FXYD2)	ENSP00000260287.2:n.*124T>A
ENST00000292079.6:c.*124T>A (FXYD2)	ENSP00000292079.2:n.*124T>A
ENST00000528014.5:c.*124T>A (FXYD2)	ENSP00000432430.1:n.*124T>A
ENST00000532119.5:c.*6+411T>A (FXYD2)	ENSP00000436414.1:n.*6+411T>A
ENST00000532984.1:c.*158T>A (FXYD6-FXYD2)	ENSP00000463024.1:n.*158T>A
ENST00000534383.5:n.883T>A (FXYD2)
ENST00000614497.5:c.*124T>A (FXYD6-FXYD2)	ENSP00000482442.1:n.*124T>A
NM_001204268.1:c.*124T>A (FXYD6-FXYD2)	NP_001191197.1:n.*124T>A
NM_001243598.2:c.*158T>A (FXYD6-FXYD2)	NP_001230527.1:n.*158T>A
NM_001680.4:c.*124T>A (FXYD2)	NP_001671.2:n.*124T>A
NM_021603.3:c.*124T>A (FXYD2)	NP_067614.1:n.*124T>A
NM_001680.5:c.*124T>A (FXYD2) MANE Select	NP_001671.2:n.*124T>A
NM_001204268.2:c.*124T>A (FXYD6-FXYD2)	NP_001191197.1:n.*124T>A
NM_001243598.3:c.*158T>A (FXYD6-FXYD2)	NP_001230527.1:n.*158T>A
NM_021603.4:c.*124T>A (FXYD2)	NP_067614.1:n.*124T>A
NM_001204268.3:c.*124T>A (FXYD6-FXYD2)	NP_001191197.1:n.*124T>A
NM_001243598.4:c.*158T>A (FXYD6-FXYD2)	NP_001230527.1:n.*158T>A