Canonical Allele Identifier: CA2673512045

Gene: AGXT2

Linked Data

• gnomAD v4: 5-34998954-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998956del , CM000667.2:g.34998956del	GRCh38
NC_000005.9:g.34999061del , CM000667.1:g.34999061del	GRCh37
NC_000005.8:g.35034818del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.1438-129del MANE Select	ENSP00000231420.6:n.1438-129del
ENST00000231420.10:c.1438-129del	ENSP00000231420.6:n.1438-129del
ENST00000510428.1:c.1213-129del	ENSP00000422799.1:n.1213-129del
ENST00000512135.5:n.1108-129del
ENST00000618015.4:c.1213-129del	ENSP00000479154.1:n.1213-129del
NM_001306173.1:c.1213-129del	NP_001293102.1:n.1213-129del
NM_031900.3:c.1438-129del	NP_114106.1:n.1438-129del
XM_005248337.2:c.1435-129del	XP_005248394.1:n.1435-129del
XM_005248338.2:c.1243-129del	XP_005248395.1:n.1243-129del
XM_011514077.1:c.1438-553del	XP_011512379.1:n.1438-553del
XM_005248337.3:c.1435-129del	XP_005248394.1:n.1435-129del
XM_005248338.3:c.1243-129del	XP_005248395.1:n.1243-129del
XM_017009748.2:c.1213-129del	XP_016865237.1:n.1213-129del
NM_031900.4:c.1438-129del MANE Select	NP_114106.1:n.1438-129del
NM_001306173.2:c.1213-129del	NP_001293102.1:n.1213-129del