Canonical Allele Identifier: CA395782753
Gene: GPT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.46906886G>A , CM000678.2:g.46906886G>A GRCh38
NC_000016.9:g.46940798G>A , CM000678.1:g.46940798G>A GRCh37
NC_000016.8:g.45498299G>A NCBI36
NG_042110.1:g.27507G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340124.9:c.487G>A MANE Select ENSP00000345282.4:p.Val163Met
ENST00000340124.8:c.487G>A ENSP00000345282.4:p.Val163Met
ENST00000440783.2:c.187G>A ENSP00000413804.2:p.Val63Met
ENST00000562132.5:c.253G>A ENSP00000457475.1:p.Val85Met
NM_001142466.1:c.187G>A NP_001135938.1:p.Val63Met
NM_001142466.2:c.187G>A NP_001135938.1:p.Val63Met
NM_133443.2:c.487G>A NP_597700.1:p.Val163Met
NM_133443.3:c.487G>A NP_597700.1:p.Val163Met
XM_017023790.1:c.55G>A XP_016879279.1:p.Val19Met
NM_133443.4:c.487G>A MANE Select NP_597700.1:p.Val163Met
NM_001142466.3:c.187G>A NP_001135938.1:p.Val63Met