Canonical Allele Identifier: CA275789

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204150
• ClinVar RCV Id: RCV000186357 ; RCV002516975
• dbSNP Id: rs180177165
• gnomAD v2: 2-241818210-T-C
• gnomAD v3: 2-240878793-T-C
• gnomAD v4: 2-240878793-T-C
• MyVariant Identifiers: chr2:g.241818210T>C (hg19) ; chr2:g.240878793T>C (hg38)
• PubMed: PMID:19479957 ; PMID:24718375

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240878793T>C , CM000664.2:g.240878793T>C	GRCh38
NC_000002.11:g.241818210T>C , CM000664.1:g.241818210T>C	GRCh37
NC_000002.10:g.241466883T>C	NCBI36
NG_008005.1:g.15049T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.1151T>C MANE Select	ENSP00000302620.3:p.Leu384Pro
ENST00000307503.3:c.1151T>C	ENSP00000302620.3:p.Leu384Pro
ENST00000470255.1:n.929T>C
NM_000030.2:c.1151T>C	NP_000021.1:p.Leu384Pro
NM_000030.3:c.1151T>C MANE Select	NP_000021.1:p.Leu384Pro