Canonical Allele Identifier: CA198546

Gene: GPT2

Linked Data

• ClinVar Variation Id: 187856
• ClinVar RCV Id: RCV000167577 ; RCV003162719
• dbSNP Id: rs786203999
• MyVariant Identifiers: chr16:g.46940770C>G (hg19) ; chr16:g.46906858C>G (hg38)
• PubMed: PMID:25758935 ; PMID:27601654

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.46906858C>G , CM000678.2:g.46906858C>G	GRCh38
NC_000016.9:g.46940770C>G , CM000678.1:g.46940770C>G	GRCh37
NC_000016.8:g.45498271C>G	NCBI36
NG_042110.1:g.27479C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340124.9:c.459C>G MANE Select	ENSP00000345282.4:p.Ser153Arg
ENST00000340124.8:c.459C>G	ENSP00000345282.4:p.Ser153Arg
ENST00000440783.2:c.159C>G	ENSP00000413804.2:p.Ser53Arg
ENST00000562132.5:c.225C>G	ENSP00000457475.1:p.Ser75Arg
NM_001142466.1:c.159C>G	NP_001135938.1:p.Ser53Arg
NM_001142466.2:c.159C>G	NP_001135938.1:p.Ser53Arg
NM_133443.2:c.459C>G	NP_597700.1:p.Ser153Arg
NM_133443.3:c.459C>G	NP_597700.1:p.Ser153Arg
XM_017023790.1:c.27C>G	XP_016879279.1:p.Ser9Arg
NM_133443.4:c.459C>G MANE Select	NP_597700.1:p.Ser153Arg
NM_001142466.3:c.159C>G	NP_001135938.1:p.Ser53Arg