Canonical Allele Identifier: CA360076314

Gene: GFM2

Linked Data

• dbSNP Id: rs1160337891
• gnomAD v2: 5-74021551-C-T
• gnomAD v3: 5-74725726-C-T
• gnomAD v4: 5-74725726-C-T
• MyVariant Identifiers: chr5:g.74021551C>T (hg19) ; chr5:g.74725726C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74725726C>T , CM000667.2:g.74725726C>T	GRCh38
NC_000005.9:g.74021551C>T , CM000667.1:g.74021551C>T	GRCh37
NC_000005.8:g.74057307C>T	NCBI36
NG_011531.1:g.46492G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.1942G>A MANE Select	ENSP00000296805.3:p.Val648Ile
ENST00000296805.7:c.1942G>A	ENSP00000296805.3:p.Val648Ile
ENST00000345239.6:c.1801G>A	ENSP00000296804.3:p.Val601Ile
ENST00000509430.5:c.1942G>A	ENSP00000427004.1:p.Val648Ile
ENST00000514734.5:n.853G>A
ENST00000515125.5:n.431+215G>A
NM_001281302.1:c.2038G>A	NP_001268231.1:p.Val680Ile
NM_032380.4:c.1942G>A	NP_115756.2:p.Val648Ile
NM_170691.2:c.1801G>A	NP_733792.1:p.Val601Ile
NR_104006.1:n.2261G>A
XM_006714721.2:c.1807G>A	XP_006714784.1:p.Val603Ile
XM_011543690.1:c.1942G>A	XP_011541992.1:p.Val648Ile
XM_017009986.1:c.1942G>A	XP_016865475.1:p.Val648Ile
XR_002956185.1:n.3228G>A
NM_032380.5:c.1942G>A MANE Select	NP_115756.2:p.Val648Ile
NM_001281302.2:c.2038G>A	NP_001268231.1:p.Val680Ile
NM_170691.3:c.1801G>A	NP_733792.1:p.Val601Ile
NR_104006.2:n.2007G>A