Canonical Allele Identifier: CA10603530

Gene: GPT2

Linked Data

• ClinVar Variation Id: 280442
• ClinVar RCV Id: RCV000318291
• dbSNP Id: rs886041649
• MyVariant Identifiers: chr16:g.46918808G>T (hg19) ; chr16:g.46884896G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.46884896G>T , CM000678.2:g.46884896G>T	GRCh38
NC_000016.9:g.46918808G>T , CM000678.1:g.46918808G>T	GRCh37
NC_000016.8:g.45476309G>T	NCBI36
NG_042110.1:g.5517G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340124.9:c.181G>T MANE Select	ENSP00000345282.4:p.Glu61Ter
ENST00000340124.8:c.181G>T	ENSP00000345282.4:p.Glu61Ter
ENST00000440783.2:c.-604G>T	ENSP00000413804.2:n.-604G>T
ENST00000562132.5:c.9+172G>T	ENSP00000457475.1:n.9+172G>T
NM_133443.2:c.181G>T	NP_597700.1:p.Glu61Ter
NM_133443.3:c.181G>T	NP_597700.1:p.Glu61Ter
NM_133443.4:c.181G>T MANE Select	NP_597700.1:p.Glu61Ter
NM_001142466.3:c.-604G>T	NP_001135938.1:n.-604G>T