Canonical Allele Identifier: CA2573331979

Gene: GPT2

Linked Data

• ClinVar Variation Id: 1722326
• ClinVar RCV Id: RCV002302440
• MutSpliceDB: CA2573331979

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.46924386C>G , CM000678.2:g.46924386C>G	GRCh38
NC_000016.9:g.46958298C>G , CM000678.1:g.46958298C>G	GRCh37
NC_000016.8:g.45515799C>G	NCBI36
NG_042110.1:g.45007C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340124.9:c.1213-3C>G MANE Select	ENSP00000345282.4:n.1213-3C>G
ENST00000340124.8:c.1213-3C>G	ENSP00000345282.4:n.1213-3C>G
ENST00000440783.2:c.913-3C>G	ENSP00000413804.2:n.913-3C>G
ENST00000562801.5:n.1723-3C>G
ENST00000569193.1:n.554C>G
NM_001142466.1:c.913-3C>G	NP_001135938.1:n.913-3C>G
NM_001142466.2:c.913-3C>G	NP_001135938.1:n.913-3C>G
NM_133443.2:c.1213-3C>G	NP_597700.1:n.1213-3C>G
NM_133443.3:c.1213-3C>G	NP_597700.1:n.1213-3C>G
XM_017023790.1:c.781-3C>G	XP_016879279.1:n.781-3C>G
NM_133443.4:c.1213-3C>G MANE Select	NP_597700.1:n.1213-3C>G
NM_001142466.3:c.913-3C>G	NP_001135938.1:n.913-3C>G