Canonical Allele Identifier: CA275610

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204062
• ClinVar RCV Id: RCV000186268
• dbSNP Id: rs143458283
• ExAC: 2:241818257 G / A
• gnomAD v2: 2-241818257-G-A
• gnomAD v3: 2-240878840-G-A
• gnomAD v4: 2-240878840-G-A
• MyVariant Identifiers: chr2:g.241818257G>A (hg19) ; chr2:g.240878840G>A (hg38)
• PubMed: PMID:19479957

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240878840G>A , CM000664.2:g.240878840G>A	GRCh38
NC_000002.11:g.241818257G>A , CM000664.1:g.241818257G>A	GRCh37
NC_000002.10:g.241466930G>A	NCBI36
NG_008005.1:g.15096G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.*19G>A MANE Select	ENSP00000302620.3:n.*19G>A
ENST00000307503.3:c.*19G>A	ENSP00000302620.3:n.*19G>A
ENST00000470255.1:n.976G>A
NM_000030.2:c.*19G>A	NP_000021.1:n.*19G>A
NM_000030.3:c.*19G>A MANE Select	NP_000021.1:n.*19G>A