Canonical Allele Identifier: CA360076018

Gene: GFM2

Linked Data

• dbSNP Id: rs1750110684
• gnomAD v3: 5-74725653-C-G
• gnomAD v4: 5-74725653-C-G
• MyVariant Identifiers: chr5:g.74021478C>G (hg19) ; chr5:g.74725653C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74725653C>G , CM000667.2:g.74725653C>G	GRCh38
NC_000005.9:g.74021478C>G , CM000667.1:g.74021478C>G	GRCh37
NC_000005.8:g.74057234C>G	NCBI36
NG_011531.1:g.46565G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2015G>C MANE Select	ENSP00000296805.3:p.Arg672Thr
ENST00000296805.7:c.2015G>C	ENSP00000296805.3:p.Arg672Thr
ENST00000345239.6:c.1874G>C	ENSP00000296804.3:p.Arg625Thr
ENST00000509430.5:c.2015G>C	ENSP00000427004.1:p.Arg672Thr
ENST00000515125.5:n.431+288G>C
NM_001281302.1:c.2111G>C	NP_001268231.1:p.Arg704Thr
NM_032380.4:c.2015G>C	NP_115756.2:p.Arg672Thr
NM_170691.2:c.1874G>C	NP_733792.1:p.Arg625Thr
NR_104006.1:n.2334G>C
XM_006714721.2:c.1880G>C	XP_006714784.1:p.Arg627Thr
XM_011543690.1:c.2015G>C	XP_011541992.1:p.Arg672Thr
XM_017009986.1:c.2015G>C	XP_016865475.1:p.Arg672Thr
XR_002956185.1:n.3301G>C
NM_032380.5:c.2015G>C MANE Select	NP_115756.2:p.Arg672Thr
NM_001281302.2:c.2111G>C	NP_001268231.1:p.Arg704Thr
NM_170691.3:c.1874G>C	NP_733792.1:p.Arg625Thr
NR_104006.2:n.2080G>C