Canonical Allele Identifier: CA273941

Gene: AGXT

Linked Data

• ClinVar Variation Id: 188774
• ClinVar RCV Id: RCV000169101 ; RCV001054661 ; RCV001194150
• dbSNP Id: rs180177267
• ExAC: 2:241815351 G / C
• gnomAD v2: 2-241815351-G-C
• gnomAD v3: 2-240875934-G-C
• gnomAD v4: 2-240875934-G-C
• MyVariant Identifiers: chr2:g.241815351G>C (hg19) ; chr2:g.240875934G>C (hg38)
• PubMed: PMID:15110324 ; PMID:15963748 ; PMID:17460142

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240875934G>C , CM000664.2:g.240875934G>C	GRCh38
NC_000002.11:g.241815351G>C , CM000664.1:g.241815351G>C	GRCh37
NC_000002.10:g.241464024G>C	NCBI36
NG_008005.1:g.12190G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.777-1G>C MANE Select	ENSP00000302620.3:n.777-1G>C
ENST00000307503.3:c.777-1G>C	ENSP00000302620.3:n.777-1G>C
ENST00000476698.1:n.429-1G>C
NM_000030.2:c.777-1G>C	NP_000021.1:n.777-1G>C
NM_000030.3:c.777-1G>C MANE Select	NP_000021.1:n.777-1G>C