Canonical Allele Identifier: CA275701

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204107
• ClinVar RCV Id: RCV000186313
• dbSNP Id: rs180177230
• ExAC: 2:241810839 T / C
• gnomAD v2: 2-241810839-T-C
• gnomAD v3: 2-240871422-T-C
• gnomAD v4: 2-240871422-T-C
• MyVariant Identifiers: chr2:g.241810839T>C (hg19) ; chr2:g.240871422T>C (hg38)
• PubMed: PMID:17495019

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240871422T>C , CM000664.2:g.240871422T>C	GRCh38
NC_000002.11:g.241810839T>C , CM000664.1:g.241810839T>C	GRCh37
NC_000002.10:g.241459512T>C	NCBI36
NG_008005.1:g.7678T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.497T>C MANE Select	ENSP00000302620.3:p.Leu166Pro
ENST00000307503.3:c.497T>C	ENSP00000302620.3:p.Leu166Pro
ENST00000472436.1:n.517T>C
ENST00000476698.1:n.234T>C
NM_000030.2:c.497T>C	NP_000021.1:p.Leu166Pro
NM_000030.3:c.497T>C MANE Select	NP_000021.1:p.Leu166Pro