Canonical Allele Identifier: CA558976724

Gene: AGXT2

Linked Data

• dbSNP Id: rs1337289502
• gnomAD v2: 5-34998873-TCTA-T
• gnomAD v4: 5-34998768-TCTA-T
• MyVariant Identifiers: chr5:g.34998874_34998876del (hg19) ; chr5:g.34998769_34998771del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998771_34998773del , CM000667.2:g.34998771_34998773del	GRCh38
NC_000005.9:g.34998876_34998878del , CM000667.1:g.34998876_34998878del	GRCh37
NC_000005.8:g.35034633_35034635del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000231420.11:c.1493_1495del MANE Select	ENSP00000231420.6:p.Val498del
ENST00000231420.10:c.1493_1495del	ENSP00000231420.6:p.Val498del
ENST00000510428.1:c.1268_1270del	ENSP00000422799.1:p.Val423del
ENST00000512135.5:n.1163_1165del
ENST00000618015.4:c.1268_1270del	ENSP00000479154.1:p.Val423del
NM_001306173.1:c.1268_1270del	NP_001293102.1:p.Val423del
NM_031900.3:c.1493_1495del	NP_114106.1:p.Val498del
XM_005248337.2:c.1490_1492del	XP_005248394.1:p.Val497del
XM_005248338.2:c.1298_1300del	XP_005248395.1:p.Val433del
XM_011514077.1:c.1438-369_1438-367del	XP_011512379.1:n.1438-369_1438-367del
XM_005248337.3:c.1490_1492del	XP_005248394.1:p.Val497del
XM_005248338.3:c.1298_1300del	XP_005248395.1:p.Val433del
XM_017009748.2:c.1268_1270del	XP_016865237.1:p.Val423del
NM_031900.4:c.1493_1495del MANE Select	NP_114106.1:p.Val498del
NM_001306173.2:c.1268_1270del	NP_001293102.1:p.Val423del