Canonical Allele Identifier: CA444851839
Gene: GFM2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.74021528C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74725703C>A , CM000667.2:g.74725703C>A GRCh38
NC_000005.9:g.74021528C>A , CM000667.1:g.74021528C>A GRCh37
NC_000005.8:g.74057284C>A NCBI36
NG_011531.1:g.46515G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296805.8:c.1965G>T MANE Select ENSP00000296805.3:p.Leu655=
ENST00000296805.7:c.1965G>T ENSP00000296805.3:p.Leu655=
ENST00000345239.6:c.1824G>T ENSP00000296804.3:p.Leu608=
ENST00000509430.5:c.1965G>T ENSP00000427004.1:p.Leu655=
ENST00000514734.5:n.876G>T
ENST00000515125.5:n.431+238G>T
NM_001281302.1:c.2061G>T NP_001268231.1:p.Leu687=
NM_032380.4:c.1965G>T NP_115756.2:p.Leu655=
NM_170691.2:c.1824G>T NP_733792.1:p.Leu608=
NR_104006.1:n.2284G>T
XM_006714721.2:c.1830G>T XP_006714784.1:p.Leu610=
XM_011543690.1:c.1965G>T XP_011541992.1:p.Leu655=
XM_017009986.1:c.1965G>T XP_016865475.1:p.Leu655=
XR_002956185.1:n.3251G>T
NM_032380.5:c.1965G>T MANE Select NP_115756.2:p.Leu655=
NM_001281302.2:c.2061G>T NP_001268231.1:p.Leu687=
NM_170691.3:c.1824G>T NP_733792.1:p.Leu608=
NR_104006.2:n.2030G>T