Canonical Allele Identifier: CA444851717
Gene: GFM2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.74021471C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74725646C>G , CM000667.2:g.74725646C>G GRCh38
NC_000005.9:g.74021471C>G , CM000667.1:g.74021471C>G GRCh37
NC_000005.8:g.74057227C>G NCBI36
NG_011531.1:g.46572G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296805.8:c.2022G>C MANE Select ENSP00000296805.3:p.Val674=
ENST00000296805.7:c.2022G>C ENSP00000296805.3:p.Val674=
ENST00000345239.6:c.1881G>C ENSP00000296804.3:p.Val627=
ENST00000509430.5:c.2022G>C ENSP00000427004.1:p.Val674=
ENST00000515125.5:n.431+295G>C
NM_001281302.1:c.2118G>C NP_001268231.1:p.Val706=
NM_032380.4:c.2022G>C NP_115756.2:p.Val674=
NM_170691.2:c.1881G>C NP_733792.1:p.Val627=
NR_104006.1:n.2341G>C
XM_006714721.2:c.1887G>C XP_006714784.1:p.Val629=
XM_011543690.1:c.2022G>C XP_011541992.1:p.Val674=
XM_017009986.1:c.2022G>C XP_016865475.1:p.Val674=
XR_002956185.1:n.3308G>C
NM_032380.5:c.2022G>C MANE Select NP_115756.2:p.Val674=
NM_001281302.2:c.2118G>C NP_001268231.1:p.Val706=
NM_170691.3:c.1881G>C NP_733792.1:p.Val627=
NR_104006.2:n.2087G>C