Canonical Allele Identifier: CA319772

Gene: GFM2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74725973A>G , CM000667.2:g.74725973A>G	GRCh38
NC_000005.9:g.74021798A>G , CM000667.1:g.74021798A>G	GRCh37
NC_000005.8:g.74057554A>G	NCBI36
NG_011531.1:g.46245T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.1880T>C MANE Select	ENSP00000296805.3:p.Ile627Thr
ENST00000296805.7:c.1880T>C	ENSP00000296805.3:p.Ile627Thr
ENST00000345239.6:c.1739T>C	ENSP00000296804.3:p.Ile580Thr
ENST00000509430.5:c.1880T>C	ENSP00000427004.1:p.Ile627Thr
ENST00000514734.5:n.791T>C
ENST00000515125.5:n.399T>C
NM_001281302.1:c.1976T>C	NP_001268231.1:p.Ile659Thr
NM_032380.4:c.1880T>C	NP_115756.2:p.Ile627Thr
NM_170691.2:c.1739T>C	NP_733792.1:p.Ile580Thr
NR_104006.1:n.2199T>C
XM_006714721.2:c.1745T>C	XP_006714784.1:p.Ile582Thr
XM_011543690.1:c.1880T>C	XP_011541992.1:p.Ile627Thr
XM_017009986.1:c.1880T>C	XP_016865475.1:p.Ile627Thr
XR_002956185.1:n.3166T>C
NM_032380.5:c.1880T>C MANE Select	NP_115756.2:p.Ile627Thr
NM_001281302.2:c.1976T>C	NP_001268231.1:p.Ile659Thr
NM_170691.3:c.1739T>C	NP_733792.1:p.Ile580Thr
NR_104006.2:n.1945T>C