Canonical Allele Identifier: CA5390156
Community Standard Title: NM_001393392.1(AKR1C2):c.369+78G>A
Gene: AKR1C2 HGNC NCBI
AKR1C1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.5000472C>T , CM000672.2:g.5000472C>T GRCh38
NC_000010.10:g.5042664C>T , CM000672.1:g.5042664C>T GRCh37
NC_000010.9:g.5032664C>T NCBI36
NG_031852.1:g.22544G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001393392.1:c.369+78G>A (AKR1C2) MANE Select NP_001380321.1:n.369+78G>A
ENST00000380753.9:c.369+78G>A (AKR1C2) MANE Select ENSP00000370129.4:n.369+78G>A
NM_001135241.2:c.370-12G>A (AKR1C2) NP_001128713.1:n.370-12G>A
NM_001135241.3:c.370-12G>A (AKR1C2) NP_001128713.1:n.370-12G>A
NM_001321027.1:c.369+78G>A (AKR1C2) NP_001307956.1:n.369+78G>A
NM_001321027.2:c.369+78G>A (AKR1C2) NP_001307956.1:n.369+78G>A
NM_001354.5:c.369+78G>A (AKR1C2) NP_001345.1:n.369+78G>A
NM_001354.6:c.369+78G>A (AKR1C2) NP_001345.1:n.369+78G>A
NM_205845.2:c.369+78G>A (AKR1C2) NP_995317.1:n.369+78G>A
NM_205845.3:c.369+78G>A (AKR1C2) NP_995317.1:n.369+78G>A
ENST00000380753.8:c.369+78G>A (AKR1C2) ENSP00000370129.4:n.369+78G>A
ENST00000407674.5:c.369+78G>A (AKR1C2) ENSP00000385221.2:n.369+78G>A
ENST00000421196.7:c.369+78G>A (AKR1C2) ENSP00000392694.2:n.369+78G>A
ENST00000434459.6:c.932+24536C>T (AKR1C1) ENSP00000412248.3:n.932+24536C>T
ENST00000455190.2:c.370-12G>A (AKR1C2) ENSP00000408440.1:n.370-12G>A
ENST00000460124.5:n.635G>A (AKR1C2)
ENST00000604184.1:n.396-12G>A (AKR1C2)
ENST00000604507.5:c.369+78G>A (AKR1C2) ENSP00000474566.1:n.369+78G>A
XM_011519342.1:c.369+78G>A (AKR1C2) XP_011517644.1:n.369+78G>A