Canonical Allele Identifier: CA395785090

Gene: GPT2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.46918756G>A , CM000678.2:g.46918756G>A	GRCh38
NC_000016.9:g.46952668G>A , CM000678.1:g.46952668G>A	GRCh37
NC_000016.8:g.45510169G>A	NCBI36
NG_042110.1:g.39377G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340124.9:c.1036G>A MANE Select	ENSP00000345282.4:p.Glu346Lys
ENST00000340124.8:c.1036G>A	ENSP00000345282.4:p.Glu346Lys
ENST00000440783.2:c.736G>A	ENSP00000413804.2:p.Glu246Lys
ENST00000562801.5:n.1546G>A
NM_001142466.1:c.736G>A	NP_001135938.1:p.Glu246Lys
NM_001142466.2:c.736G>A	NP_001135938.1:p.Glu246Lys
NM_133443.2:c.1036G>A	NP_597700.1:p.Glu346Lys
NM_133443.3:c.1036G>A	NP_597700.1:p.Glu346Lys
XM_017023790.1:c.604G>A	XP_016879279.1:p.Glu202Lys
NM_133443.4:c.1036G>A MANE Select	NP_597700.1:p.Glu346Lys
NM_001142466.3:c.736G>A	NP_001135938.1:p.Glu246Lys