Canonical Allele Identifier: CA3069815

Gene: FGF2 NUDT6

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122893153C>T , CM000666.2:g.122893153C>T	GRCh38
NC_000004.11:g.123814308C>T , CM000666.1:g.123814308C>T	GRCh37
NC_000004.10:g.124033758C>T	NCBI36
NG_029067.1:g.71446C>T
NG_030404.1:g.34852G>A
NG_029067.2:g.71446C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264498.9:c.*757C>T (FGF2)	ENSP00000264498.4:n.*757C>T
ENST00000264498.8:c.*757C>T (FGF2)	ENSP00000264498.4:n.*757C>T
ENST00000304430.10:c.626G>A (NUDT6) MANE Select	ENSP00000306070.5:p.Arg209Gln
ENST00000644866.2:c.*757C>T (FGF2) MANE Select	ENSP00000494222.1:n.*757C>T
ENST00000264498.7:c.*757C>T (FGF2)	ENSP00000264498.3:n.*757C>T
ENST00000304430.9:c.626G>A (NUDT6)	ENSP00000306070.5:p.Arg209Gln
ENST00000339154.6:c.119G>A (NUDT6)	ENSP00000344011.2:p.Arg40Gln
ENST00000502270.5:c.119G>A (NUDT6)	ENSP00000424117.1:p.Arg40Gln
ENST00000503370.5:c.*567G>A (NUDT6)	ENSP00000422698.1:n.*567G>A
ENST00000510735.1:c.236G>A (NUDT6)
ENST00000512116.5:c.*717G>A (NUDT6)	ENSP00000420843.1:n.*717G>A
ENST00000608478.1:c.*757C>T (FGF2)	ENSP00000477134.1:n.*757C>T
ENST00000614010.4:c.*757C>T (FGF2)	ENSP00000478620.1:n.*757C>T
NM_002006.4:c.*757C>T (FGF2)	NP_001997.5:n.*757C>T
NM_007083.4:c.626G>A (NUDT6)	NP_009014.2:p.Arg209Gln
NM_198041.2:c.119G>A (NUDT6)	NP_932158.1:p.Arg40Gln
NM_001361665.1:c.*757C>T (FGF2)	NP_001348594.1:n.*757C>T
NM_002006.5:c.*757C>T (FGF2)	NP_001997.5:n.*757C>T
NM_001361665.2:c.*757C>T (FGF2) MANE Select	NP_001348594.1:n.*757C>T
NM_007083.5:c.626G>A (NUDT6) MANE Select	NP_009014.2:p.Arg209Gln
NM_198041.3:c.119G>A (NUDT6)	NP_932158.1:p.Arg40Gln
NM_002006.6:c.*757C>T (FGF2)	NP_001997.5:n.*757C>T