Canonical Allele Identifier: CA810100702

Gene: AGXT2

Linked Data

• dbSNP Id: rs1354697544
• gnomAD v3: 5-34999073-T-G
• gnomAD v4: 5-34999073-T-G
• MyVariant Identifiers: chr5:g.34999178T>G (hg19) ; chr5:g.34999073T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34999073T>G , CM000667.2:g.34999073T>G	GRCh38
NC_000005.9:g.34999178T>G , CM000667.1:g.34999178T>G	GRCh37
NC_000005.8:g.35034935T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231420.11:c.1438-247A>C MANE Select	ENSP00000231420.6:n.1438-247A>C
ENST00000231420.10:c.1438-247A>C	ENSP00000231420.6:n.1438-247A>C
ENST00000510428.1:c.1213-247A>C	ENSP00000422799.1:n.1213-247A>C
ENST00000512135.5:n.1108-247A>C
ENST00000618015.4:c.1213-247A>C	ENSP00000479154.1:n.1213-247A>C
NM_001306173.1:c.1213-247A>C	NP_001293102.1:n.1213-247A>C
NM_031900.3:c.1438-247A>C	NP_114106.1:n.1438-247A>C
XM_005248337.2:c.1435-247A>C	XP_005248394.1:n.1435-247A>C
XM_005248338.2:c.1243-247A>C	XP_005248395.1:n.1243-247A>C
XM_011514077.1:c.1438-671A>C	XP_011512379.1:n.1438-671A>C
XM_005248337.3:c.1435-247A>C	XP_005248394.1:n.1435-247A>C
XM_005248338.3:c.1243-247A>C	XP_005248395.1:n.1243-247A>C
XM_017009748.2:c.1213-247A>C	XP_016865237.1:n.1213-247A>C
NM_031900.4:c.1438-247A>C MANE Select	NP_114106.1:n.1438-247A>C
NM_001306173.2:c.1213-247A>C	NP_001293102.1:n.1213-247A>C