Canonical Allele Identifier: CA560368809

Gene: GFM2

Linked Data

• dbSNP Id: rs1271538133
• gnomAD v2: 5-74021390-A-G
• gnomAD v3: 5-74725565-A-G
• gnomAD v4: 5-74725565-A-G
• MyVariant Identifiers: chr5:g.74021390A>G (hg19) ; chr5:g.74725565A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74725565A>G , CM000667.2:g.74725565A>G	GRCh38
NC_000005.9:g.74021390A>G , CM000667.1:g.74021390A>G	GRCh37
NC_000005.8:g.74057146A>G	NCBI36
NG_011531.1:g.46653T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2028+75T>C MANE Select	ENSP00000296805.3:n.2028+75T>C
ENST00000296805.7:c.2028+75T>C	ENSP00000296805.3:n.2028+75T>C
ENST00000345239.6:c.1887+75T>C	ENSP00000296804.3:n.1887+75T>C
ENST00000509430.5:c.2028+75T>C	ENSP00000427004.1:n.2028+75T>C
ENST00000515125.5:n.431+376T>C
NM_001281302.1:c.2124+75T>C	NP_001268231.1:n.2124+75T>C
NM_032380.4:c.2028+75T>C	NP_115756.2:n.2028+75T>C
NM_170691.2:c.1887+75T>C	NP_733792.1:n.1887+75T>C
NR_104006.1:n.2347+75T>C
XM_006714721.2:c.1893+75T>C	XP_006714784.1:n.1893+75T>C
XM_011543690.1:c.2028+75T>C	XP_011541992.1:n.2028+75T>C
XM_017009986.1:c.2028+75T>C	XP_016865475.1:n.2028+75T>C
XR_002956185.1:n.3314+75T>C
NM_032380.5:c.2028+75T>C MANE Select	NP_115756.2:n.2028+75T>C
NM_001281302.2:c.2124+75T>C	NP_001268231.1:n.2124+75T>C
NM_170691.3:c.1887+75T>C	NP_733792.1:n.1887+75T>C
NR_104006.2:n.2093+75T>C