Canonical Allele Identifier: CA275808

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204168
• ClinVar RCV Id: RCV000186375 ; RCV001269136
• dbSNP Id: rs180177285
• gnomAD v4: 2-240877536-G-C
• MyVariant Identifiers: chr2:g.241816953G>C (hg19) ; chr2:g.240877536G>C (hg38)
• PubMed: PMID:10862087

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240877536G>C , CM000664.2:g.240877536G>C	GRCh38
NC_000002.11:g.241816953G>C , CM000664.1:g.241816953G>C	GRCh37
NC_000002.10:g.241465626G>C	NCBI36
NG_008005.1:g.13792G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.847-1G>C MANE Select	ENSP00000302620.3:n.847-1G>C
ENST00000307503.3:c.847-1G>C	ENSP00000302620.3:n.847-1G>C
ENST00000470255.1:n.624G>C
NM_000030.2:c.847-1G>C	NP_000021.1:n.847-1G>C
NM_000030.3:c.847-1G>C MANE Select	NP_000021.1:n.847-1G>C