Canonical Allele Identifier: CA275640

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204078
• ClinVar RCV Id: RCV000186284
• dbSNP Id: rs767586362
• ExAC: 2:241808596 G / A
• gnomAD v2: 2-241808596-G-A
• gnomAD v3: 2-240869179-G-A
• gnomAD v4: 2-240869179-G-A
• COSMIC: COSM3579992
• MyVariant Identifiers: chr2:g.241808596G>A (hg19) ; chr2:g.240869179G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869179G>A , CM000664.2:g.240869179G>A	GRCh38
NC_000002.11:g.241808596G>A , CM000664.1:g.241808596G>A	GRCh37
NC_000002.10:g.241457269G>A	NCBI36
NG_008005.1:g.5435G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.175G>A MANE Select	ENSP00000302620.3:p.Glu59Lys
ENST00000307503.3:c.175G>A	ENSP00000302620.3:p.Glu59Lys
ENST00000472436.1:n.195G>A
NM_000030.2:c.175G>A	NP_000021.1:p.Glu59Lys
XR_924060.1:n.405+1054C>T
NM_000030.3:c.175G>A MANE Select	NP_000021.1:p.Glu59Lys