Canonical Allele Identifier: CA137301265
Community Standard Title: NM_021922.3(FANCE):c.1238-2A>C
Gene: FANCE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35459680A>C , CM000668.2:g.35459680A>C GRCh38
NC_000006.11:g.35427457A>C , CM000668.1:g.35427457A>C GRCh37
NC_000006.10:g.35535435A>C NCBI36
NG_011708.1:g.12320A>C , LRG_498:g.12320A>C

Transcript Alleles

HGVS Amino-acid Change
NM_021922.3:c.1238-2A>C MANE Select NP_068741.1:n.1238-2A>C
ENST00000229769.3:c.1238-2A>C MANE Select ENSP00000229769.2:n.1238-2A>C
NM_021922.2:c.1238-2A>C , LRG_498t1:c.1238-2A>C NP_068741.1:n.1238-2A>C
ENST00000229769.2:c.1238-2A>C ENSP00000229769.2:n.1238-2A>C
ENST00000648059.1:c.1238-2A>C ENSP00000497902.1:n.1238-2A>C
ENST00000696264.1:c.1238-2A>C ENSP00000512511.1:n.1238-2A>C
ENST00000696265.1:c.1238-2A>C ENSP00000512512.1:n.1238-2A>C
ENST00000696266.1:c.887-2A>C ENSP00000512513.1:n.887-2A>C
ENST00000696267.1:n.1505-2A>C
ENST00000696268.1:n.98-2A>C
XM_005248885.2:c.1217-2A>C XP_005248942.1:n.1217-2A>C
XM_005248886.2:c.1169-2A>C XP_005248943.1:n.1169-2A>C
XM_005248887.2:c.1238-2A>C XP_005248944.1:n.1238-2A>C
XM_005248888.2:c.1238-2A>C XP_005248945.1:n.1238-2A>C
XM_005248888.3:c.1238-2A>C XP_005248945.1:n.1238-2A>C
XM_011514343.1:c.944-2A>C XP_011512645.1:n.944-2A>C
XM_011514343.2:c.944-2A>C XP_011512645.1:n.944-2A>C
XM_011514344.1:c.944-2A>C XP_011512646.1:n.944-2A>C
XR_001743226.1:n.1445-2A>C
XR_002956267.1:n.1739-2A>C