Canonical Allele Identifier: CA8038542
Gene: GPT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.46897690G>A , CM000678.2:g.46897690G>A GRCh38
NC_000016.9:g.46931602G>A , CM000678.1:g.46931602G>A GRCh37
NC_000016.8:g.45489103G>A NCBI36
NG_042110.1:g.18311G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340124.9:c.286G>A MANE Select ENSP00000345282.4:p.Gly96Arg
ENST00000340124.8:c.286G>A ENSP00000345282.4:p.Gly96Arg
ENST00000440783.2:c.-15G>A ENSP00000413804.2:n.-15G>A
ENST00000562132.5:c.52G>A ENSP00000457475.1:p.Gly18Arg
NM_001142466.1:c.-15G>A NP_001135938.1:n.-15G>A
NM_001142466.2:c.-15G>A NP_001135938.1:n.-15G>A
NM_133443.2:c.286G>A NP_597700.1:p.Gly96Arg
NM_133443.3:c.286G>A NP_597700.1:p.Gly96Arg
NM_133443.4:c.286G>A MANE Select NP_597700.1:p.Gly96Arg
NM_001142466.3:c.-15G>A NP_001135938.1:n.-15G>A