Canonical Allele Identifier: CA540535883

Gene: AGXT

Linked Data

• dbSNP Id: rs1362157530
• gnomAD v2: 2-241812603-T-C
• gnomAD v3: 2-240873186-T-C
• gnomAD v4: 2-240873186-T-C
• MyVariant Identifiers: chr2:g.241812603T>C (hg19) ; chr2:g.240873186T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240873186T>C , CM000664.2:g.240873186T>C	GRCh38
NC_000002.11:g.241812603T>C , CM000664.1:g.241812603T>C	GRCh37
NC_000002.10:g.241461276T>C	NCBI36
NG_008005.1:g.9442T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.595+137T>C MANE Select	ENSP00000302620.3:n.595+137T>C
ENST00000307503.3:c.595+137T>C	ENSP00000302620.3:n.595+137T>C
ENST00000472436.1:n.752T>C
ENST00000476698.1:n.332+137T>C
NM_000030.2:c.595+137T>C	NP_000021.1:n.595+137T>C
NM_000030.3:c.595+137T>C MANE Select	NP_000021.1:n.595+137T>C