Canonical Allele Identifier: CA358228352

Gene: FGF2 NUDT6

Linked Data

• dbSNP Id: rs1048201
• gnomAD v4: 4-122893153-C-G
• MyVariant Identifiers: chr4:g.123814308C>G (hg19) ; chr4:g.122893153C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000264498.9:c.*757C>G (FGF2)	ENSP00000264498.4:n.*757C>G
ENST00000264498.8:c.*757C>G (FGF2)	ENSP00000264498.4:n.*757C>G
ENST00000304430.10:c.626G>C (NUDT6) MANE Select	ENSP00000306070.5:p.Arg209Pro
ENST00000644866.2:c.*757C>G (FGF2) MANE Select	ENSP00000494222.1:n.*757C>G
ENST00000264498.7:c.*757C>G (FGF2)	ENSP00000264498.3:n.*757C>G
ENST00000304430.9:c.626G>C (NUDT6)	ENSP00000306070.5:p.Arg209Pro
ENST00000339154.6:c.119G>C (NUDT6)	ENSP00000344011.2:p.Arg40Pro
ENST00000502270.5:c.119G>C (NUDT6)	ENSP00000424117.1:p.Arg40Pro
ENST00000503370.5:c.*567G>C (NUDT6)	ENSP00000422698.1:n.*567G>C
ENST00000510735.1:c.236G>C (NUDT6)
ENST00000512116.5:c.*717G>C (NUDT6)	ENSP00000420843.1:n.*717G>C
ENST00000608478.1:c.*757C>G (FGF2)	ENSP00000477134.1:n.*757C>G
ENST00000614010.4:c.*757C>G (FGF2)	ENSP00000478620.1:n.*757C>G
NM_002006.4:c.*757C>G (FGF2)	NP_001997.5:n.*757C>G
NM_007083.4:c.626G>C (NUDT6)	NP_009014.2:p.Arg209Pro
NM_198041.2:c.119G>C (NUDT6)	NP_932158.1:p.Arg40Pro
NM_001361665.1:c.*757C>G (FGF2)	NP_001348594.1:n.*757C>G
NM_002006.5:c.*757C>G (FGF2)	NP_001997.5:n.*757C>G
NM_001361665.2:c.*757C>G (FGF2) MANE Select	NP_001348594.1:n.*757C>G
NM_007083.5:c.626G>C (NUDT6) MANE Select	NP_009014.2:p.Arg209Pro
NM_198041.3:c.119G>C (NUDT6)	NP_932158.1:p.Arg40Pro
NM_002006.6:c.*757C>G (FGF2)	NP_001997.5:n.*757C>G