Canonical Allele Identifier: CA1074968880

Gene: AGXT2

Linked Data

• dbSNP Id: rs1766127226
• gnomAD v3: 5-34998908-CA-C
• gnomAD v4: 5-34998908-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998912del , CM000667.2:g.34998912del	GRCh38
NC_000005.9:g.34999017del , CM000667.1:g.34999017del	GRCh37
NC_000005.8:g.35034774del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.1438-83del MANE Select	ENSP00000231420.6:n.1438-83del
ENST00000231420.10:c.1438-83del	ENSP00000231420.6:n.1438-83del
ENST00000510428.1:c.1213-83del	ENSP00000422799.1:n.1213-83del
ENST00000512135.5:n.1108-83del
ENST00000618015.4:c.1213-83del	ENSP00000479154.1:n.1213-83del
NM_001306173.1:c.1213-83del	NP_001293102.1:n.1213-83del
NM_031900.3:c.1438-83del	NP_114106.1:n.1438-83del
XM_005248337.2:c.1435-83del	XP_005248394.1:n.1435-83del
XM_005248338.2:c.1243-83del	XP_005248395.1:n.1243-83del
XM_011514077.1:c.1438-507del	XP_011512379.1:n.1438-507del
XM_005248337.3:c.1435-83del	XP_005248394.1:n.1435-83del
XM_005248338.3:c.1243-83del	XP_005248395.1:n.1243-83del
XM_017009748.2:c.1213-83del	XP_016865237.1:n.1213-83del
NM_031900.4:c.1438-83del MANE Select	NP_114106.1:n.1438-83del
NM_001306173.2:c.1213-83del	NP_001293102.1:n.1213-83del