Canonical Allele Identifier: CA8038687

Gene: GPT2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.46909882T>C , CM000678.2:g.46909882T>C	GRCh38
NC_000016.9:g.46943794T>C , CM000678.1:g.46943794T>C	GRCh37
NC_000016.8:g.45501295T>C	NCBI36
NG_042110.1:g.30503T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340124.9:c.775T>C MANE Select	ENSP00000345282.4:p.Cys259Arg
ENST00000340124.8:c.775T>C	ENSP00000345282.4:p.Cys259Arg
ENST00000440783.2:c.475T>C	ENSP00000413804.2:p.Cys159Arg
NM_001142466.1:c.475T>C	NP_001135938.1:p.Cys159Arg
NM_001142466.2:c.475T>C	NP_001135938.1:p.Cys159Arg
NM_133443.2:c.775T>C	NP_597700.1:p.Cys259Arg
NM_133443.3:c.775T>C	NP_597700.1:p.Cys259Arg
XM_017023790.1:c.343T>C	XP_016879279.1:p.Cys115Arg
NM_133443.4:c.775T>C MANE Select	NP_597700.1:p.Cys259Arg
NM_001142466.3:c.475T>C	NP_001135938.1:p.Cys159Arg