Canonical Allele Identifier: CA444851928
Gene: GFM2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.74021570A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74725745A>T , CM000667.2:g.74725745A>T GRCh38
NC_000005.9:g.74021570A>T , CM000667.1:g.74021570A>T GRCh37
NC_000005.8:g.74057326A>T NCBI36
NG_011531.1:g.46473T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296805.8:c.1923T>A MANE Select ENSP00000296805.3:p.Leu641=
ENST00000296805.7:c.1923T>A ENSP00000296805.3:p.Leu641=
ENST00000345239.6:c.1782T>A ENSP00000296804.3:p.Leu594=
ENST00000509430.5:c.1923T>A ENSP00000427004.1:p.Leu641=
ENST00000514734.5:n.834T>A
ENST00000515125.5:n.431+196T>A
NM_001281302.1:c.2019T>A NP_001268231.1:p.Leu673=
NM_032380.4:c.1923T>A NP_115756.2:p.Leu641=
NM_170691.2:c.1782T>A NP_733792.1:p.Leu594=
NR_104006.1:n.2242T>A
XM_006714721.2:c.1788T>A XP_006714784.1:p.Leu596=
XM_011543690.1:c.1923T>A XP_011541992.1:p.Leu641=
XM_017009986.1:c.1923T>A XP_016865475.1:p.Leu641=
XR_002956185.1:n.3209T>A
NM_032380.5:c.1923T>A MANE Select NP_115756.2:p.Leu641=
NM_001281302.2:c.2019T>A NP_001268231.1:p.Leu673=
NM_170691.3:c.1782T>A NP_733792.1:p.Leu594=
NR_104006.2:n.1988T>A