Canonical Allele Identifier: CA3228934

Gene: AGXT2

Linked Data

• dbSNP Id: rs770280179
• ExAC: 5:34998957 A / AACC
• gnomAD v2: 5-34998957-A-AACC
• MyVariant Identifiers: chr5:g.34998957_34998958insACC (hg19) ; chr5:g.34998852_34998853insACC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998854_34998855insCAC , CM000667.2:g.34998854_34998855insCAC	GRCh38
NC_000005.9:g.34998959_34998960insCAC , CM000667.1:g.34998959_34998960insCAC	GRCh37
NC_000005.8:g.35034716_35034717insCAC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.1438-27_1438-26insGGT MANE Select	ENSP00000231420.6:n.1438-27_1438-26insGGT
ENST00000231420.10:c.1438-27_1438-26insGGT	ENSP00000231420.6:n.1438-27_1438-26insGGT
ENST00000510428.1:c.1213-27_1213-26insGGT	ENSP00000422799.1:n.1213-27_1213-26insGGT
ENST00000512135.5:n.1108-27_1108-26insGGT
ENST00000618015.4:c.1213-27_1213-26insGGT	ENSP00000479154.1:n.1213-27_1213-26insGGT
NM_001306173.1:c.1213-27_1213-26insGGT	NP_001293102.1:n.1213-27_1213-26insGGT
NM_031900.3:c.1438-27_1438-26insGGT	NP_114106.1:n.1438-27_1438-26insGGT
XM_005248337.2:c.1435-27_1435-26insGGT	XP_005248394.1:n.1435-27_1435-26insGGT
XM_005248338.2:c.1243-27_1243-26insGGT	XP_005248395.1:n.1243-27_1243-26insGGT
XM_011514077.1:c.1438-451_1438-450insGGT	XP_011512379.1:n.1438-451_1438-450insGGT
XM_005248337.3:c.1435-27_1435-26insGGT	XP_005248394.1:n.1435-27_1435-26insGGT
XM_005248338.3:c.1243-27_1243-26insGGT	XP_005248395.1:n.1243-27_1243-26insGGT
XM_017009748.2:c.1213-27_1213-26insGGT	XP_016865237.1:n.1213-27_1213-26insGGT
NM_031900.4:c.1438-27_1438-26insGGT MANE Select	NP_114106.1:n.1438-27_1438-26insGGT
NM_001306173.2:c.1213-27_1213-26insGGT	NP_001293102.1:n.1213-27_1213-26insGGT