Canonical Allele Identifier: CA143962

Gene: GFM2

Linked Data

• ClinVar Variation Id: 55856
• ClinVar RCV Id: RCV000049273 ; RCV000196748
• dbSNP Id: rs140077535
• ExAC: 5:74021950 A / T
• gnomAD v2: 5-74021950-A-T
• gnomAD v3: 5-74726125-A-T
• gnomAD v4: 5-74726125-A-T
• MyVariant Identifiers: chr5:g.74021950A>T (hg19) ; chr5:g.74726125A>T (hg38)
• PubMed: PMID:22700954

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74726125A>T , CM000667.2:g.74726125A>T	GRCh38
NC_000005.9:g.74021950A>T , CM000667.1:g.74021950A>T	GRCh37
NC_000005.8:g.74057706A>T	NCBI36
NG_011531.1:g.46093T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000296805.8:c.1728T>A MANE Select	ENSP00000296805.3:p.Asp576Glu
ENST00000296805.7:c.1728T>A	ENSP00000296805.3:p.Asp576Glu
ENST00000345239.6:c.1587T>A	ENSP00000296804.3:p.Asp529Glu
ENST00000509430.5:c.1728T>A	ENSP00000427004.1:p.Asp576Glu
ENST00000514734.5:n.639T>A
ENST00000515125.5:n.247T>A
NM_001281302.1:c.1824T>A	NP_001268231.1:p.Asp608Glu
NM_032380.4:c.1728T>A	NP_115756.2:p.Asp576Glu
NM_170691.2:c.1587T>A	NP_733792.1:p.Asp529Glu
NR_104006.1:n.2047T>A
XM_006714721.2:c.1593T>A	XP_006714784.1:p.Asp531Glu
XM_011543690.1:c.1728T>A	XP_011541992.1:p.Asp576Glu
XM_017009986.1:c.1728T>A	XP_016865475.1:p.Asp576Glu
XR_002956185.1:n.3014T>A
NM_032380.5:c.1728T>A MANE Select	NP_115756.2:p.Asp576Glu
NM_001281302.2:c.1824T>A	NP_001268231.1:p.Asp608Glu
NM_170691.3:c.1587T>A	NP_733792.1:p.Asp529Glu
NR_104006.2:n.1793T>A