Canonical Allele Identifier: CA322503

Gene: GFM2

Linked Data

• ClinVar Variation Id: 214506
• ClinVar RCV Id: RCV000198026 ; RCV000881006
• dbSNP Id: rs367960522
• ExAC: 5:74021473 C / T
• gnomAD v2: 5-74021473-C-T
• gnomAD v3: 5-74725648-C-T
• gnomAD v4: 5-74725648-C-T
• MyVariant Identifiers: chr5:g.74021473C>T (hg19) ; chr5:g.74725648C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74725648C>T , CM000667.2:g.74725648C>T	GRCh38
NC_000005.9:g.74021473C>T , CM000667.1:g.74021473C>T	GRCh37
NC_000005.8:g.74057229C>T	NCBI36
NG_011531.1:g.46570G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000296805.8:c.2020G>A MANE Select	ENSP00000296805.3:p.Val674Met
ENST00000296805.7:c.2020G>A	ENSP00000296805.3:p.Val674Met
ENST00000345239.6:c.1879G>A	ENSP00000296804.3:p.Val627Met
ENST00000509430.5:c.2020G>A	ENSP00000427004.1:p.Val674Met
ENST00000515125.5:n.431+293G>A
NM_001281302.1:c.2116G>A	NP_001268231.1:p.Val706Met
NM_032380.4:c.2020G>A	NP_115756.2:p.Val674Met
NM_170691.2:c.1879G>A	NP_733792.1:p.Val627Met
NR_104006.1:n.2339G>A
XM_006714721.2:c.1885G>A	XP_006714784.1:p.Val629Met
XM_011543690.1:c.2020G>A	XP_011541992.1:p.Val674Met
XM_017009986.1:c.2020G>A	XP_016865475.1:p.Val674Met
XR_002956185.1:n.3306G>A
NM_032380.5:c.2020G>A MANE Select	NP_115756.2:p.Val674Met
NM_001281302.2:c.2116G>A	NP_001268231.1:p.Val706Met
NM_170691.3:c.1879G>A	NP_733792.1:p.Val627Met
NR_104006.2:n.2085G>A