Canonical Allele Identifier: CA786418208
Gene: FGF2 HGNC NCBI
NUDT6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122895552T>A , CM000666.2:g.122895552T>A GRCh38
NC_000004.11:g.123816707T>A , CM000666.1:g.123816707T>A GRCh37
NC_000004.10:g.124036157T>A NCBI36
NG_029067.1:g.73845T>A
NG_030404.1:g.32453A>T
NG_029067.2:g.73845T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264498.9:c.*3156T>A (FGF2) ENSP00000264498.4:n.*3156T>A
ENST00000264498.8:c.*3156T>A (FGF2) ENSP00000264498.4:n.*3156T>A
ENST00000304430.10:c.553+2072A>T (NUDT6) MANE Select ENSP00000306070.5:n.553+2072A>T
ENST00000644866.2:c.*3156T>A (FGF2) MANE Select ENSP00000494222.1:n.*3156T>A
ENST00000264498.7:c.*3156T>A (FGF2) ENSP00000264498.3:n.*3156T>A
ENST00000304430.9:c.553+2072A>T (NUDT6) ENSP00000306070.5:n.553+2072A>T
ENST00000339154.6:c.46+2072A>T (NUDT6) ENSP00000344011.2:n.46+2072A>T
ENST00000502270.5:c.46+2072A>T (NUDT6) ENSP00000424117.1:n.46+2072A>T
ENST00000503370.5:c.*495-2327A>T (NUDT6) ENSP00000422698.1:n.*495-2327A>T
ENST00000510735.1:c.163+2072A>T (NUDT6)
ENST00000512116.5:c.*644+2072A>T (NUDT6) ENSP00000420843.1:n.*644+2072A>T
ENST00000614010.4:c.*3156T>A (FGF2) ENSP00000478620.1:n.*3156T>A
NM_002006.4:c.*3156T>A (FGF2) NP_001997.5:n.*3156T>A
NM_007083.4:c.553+2072A>T (NUDT6) NP_009014.2:n.553+2072A>T
NM_198041.2:c.46+2072A>T (NUDT6) NP_932158.1:n.46+2072A>T
NM_001361665.1:c.*3156T>A (FGF2) NP_001348594.1:n.*3156T>A
NM_002006.5:c.*3156T>A (FGF2) NP_001997.5:n.*3156T>A
NM_001361665.2:c.*3156T>A (FGF2) MANE Select NP_001348594.1:n.*3156T>A
NM_007083.5:c.553+2072A>T (NUDT6) MANE Select NP_009014.2:n.553+2072A>T
NM_198041.3:c.46+2072A>T (NUDT6) NP_932158.1:n.46+2072A>T
NM_002006.6:c.*3156T>A (FGF2) NP_001997.5:n.*3156T>A
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