Canonical Allele Identifier: CA340441

Gene: AGXT

Linked Data

• ClinVar Variation Id: 5640
• ClinVar RCV Id: RCV000005994 ; RCV000420710
• dbSNP Id: rs121908520
• gnomAD v2: 2-241813412-T-C
• gnomAD v3: 2-240873995-T-C
• gnomAD v4: 2-240873995-T-C
• MyVariant Identifiers: chr2:g.241813412T>C (hg19) ; chr2:g.240873995T>C (hg38)
• PubMed: PMID:2039493 ; PMID:16971151 ; PMID:20301460

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240873995T>C , CM000664.2:g.240873995T>C	GRCh38
NC_000002.11:g.241813412T>C , CM000664.1:g.241813412T>C	GRCh37
NC_000002.10:g.241462085T>C	NCBI36
NG_008005.1:g.10251T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.613T>C MANE Select	ENSP00000302620.3:p.Ser205Pro
ENST00000307503.3:c.613T>C	ENSP00000302620.3:p.Ser205Pro
ENST00000476698.1:n.332+946T>C
NM_000030.2:c.613T>C	NP_000021.1:p.Ser205Pro
NM_000030.3:c.613T>C MANE Select	NP_000021.1:p.Ser205Pro