Canonical Allele Identifier: CA360075935

Gene: GFM2

Linked Data

• MyVariant Identifiers: chr5:g.74021465C>G (hg19) ; chr5:g.74725640C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74725640C>G , CM000667.2:g.74725640C>G	GRCh38
NC_000005.9:g.74021465C>G , CM000667.1:g.74021465C>G	GRCh37
NC_000005.8:g.74057221C>G	NCBI36
NG_011531.1:g.46578G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2028G>C MANE Select	ENSP00000296805.3:p.Lys676Asn
ENST00000296805.7:c.2028G>C	ENSP00000296805.3:p.Lys676Asn
ENST00000345239.6:c.1887G>C	ENSP00000296804.3:p.Lys629Asn
ENST00000509430.5:c.2028G>C	ENSP00000427004.1:p.Lys676Asn
ENST00000515125.5:n.431+301G>C
NM_001281302.1:c.2124G>C	NP_001268231.1:p.Lys708Asn
NM_032380.4:c.2028G>C	NP_115756.2:p.Lys676Asn
NM_170691.2:c.1887G>C	NP_733792.1:p.Lys629Asn
NR_104006.1:n.2347G>C
XM_006714721.2:c.1893G>C	XP_006714784.1:p.Lys631Asn
XM_011543690.1:c.2028G>C	XP_011541992.1:p.Lys676Asn
XM_017009986.1:c.2028G>C	XP_016865475.1:p.Lys676Asn
XR_002956185.1:n.3314G>C
NM_032380.5:c.2028G>C MANE Select	NP_115756.2:p.Lys676Asn
NM_001281302.2:c.2124G>C	NP_001268231.1:p.Lys708Asn
NM_170691.3:c.1887G>C	NP_733792.1:p.Lys629Asn
NR_104006.2:n.2093G>C