Canonical Allele Identifier: CA13941184
Gene: CHURC1-FNTB HGNC NCBI
GPX2 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs2071566

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64940282C>T , CM000676.2:g.64940282C>T GRCh38
NC_000014.8:g.65407000C>T , CM000676.1:g.65407000C>T GRCh37
NC_000014.7:g.64476753C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_001202558.1:c.6+16156C>T (CHURC1-FNTB) VV NP_001189487.1:p.=
NM_001202559.1:c.327+14202C>T (CHURC1-FNTB) VV NP_001189488.1:p.=
NM_002083.3:c.223-444G>A (GPX2) VV NP_002074.2:p.=
NR_046320.1:n.402-84G>A (GPX2)
NR_046321.1:n.607-444G>A (GPX2)
NR_138078.1:n.612-444G>A (GPX2)
NM_002083.4:c.223-444G>A (GPX2) VV NP_002074.2:p.=
ENST00000389614.5:c.223-444G>A ENSP00000374265.5:p.=
ENST00000549987.1:c.246+14202C>T ENSP00000447121.2:p.=
ENST00000551093.5:n.266-3017C>T
ENST00000551823.1:n.320+7990C>T ENSP00000449709.1:p.=
ENST00000551947.5:n.229-3017C>T
ENST00000552941.5:n.186+16156C>T
ENST00000553522.1:c.223-84G>A ENSP00000450991.1:p.=
ENST00000553743.5:n.91+16156C>T ENSP00000450692.1:p.=
ENST00000557049.1:n.55-444G>A ENSP00000451721.1:p.=
ENST00000557323.1:c.*191-444G>A ENSP00000451844.1:p.=
ENST00000612794.1:c.220-444G>A ENSP00000478082.1:p.=