Canonical Allele Identifier: CA275546

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204019
• ClinVar RCV Id: RCV000186221 ; RCV000881725 ; RCV002516973
• dbSNP Id: rs142969817
• ExAC: 2:241808317 A / G
• gnomAD v2: 2-241808317-A-G
• gnomAD v3: 2-240868900-A-G
• gnomAD v4: 2-240868900-A-G
• MyVariant Identifiers: chr2:g.241808317A>G (hg19) ; chr2:g.240868900A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240868900A>G , CM000664.2:g.240868900A>G	GRCh38
NC_000002.11:g.241808317A>G , CM000664.1:g.241808317A>G	GRCh37
NC_000002.10:g.241456990A>G	NCBI36
NG_008005.1:g.5156A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.35A>G MANE Select	ENSP00000302620.3:p.Lys12Arg
ENST00000307503.3:c.35A>G	ENSP00000302620.3:p.Lys12Arg
ENST00000472436.1:n.55A>G
NM_000030.2:c.35A>G	NP_000021.1:p.Lys12Arg
XR_924060.1:n.405+1333T>C
NM_000030.3:c.35A>G MANE Select	NP_000021.1:p.Lys12Arg