Canonical Allele Identifier: CA275679

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204096
• ClinVar RCV Id: RCV000186302
• dbSNP Id: rs138025751
• ExAC: 2:241808774 G / A
• gnomAD v2: 2-241808774-G-A
• gnomAD v3: 2-240869357-G-A
• gnomAD v4: 2-240869357-G-A
• COSMIC: COSM1669904
• MyVariant Identifiers: chr2:g.241808774G>A (hg19) ; chr2:g.240869357G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869357G>A , CM000664.2:g.240869357G>A	GRCh38
NC_000002.11:g.241808774G>A , CM000664.1:g.241808774G>A	GRCh37
NC_000002.10:g.241457447G>A	NCBI36
NG_008005.1:g.5613G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.353G>A MANE Select	ENSP00000302620.3:p.Arg118His
ENST00000307503.3:c.353G>A	ENSP00000302620.3:p.Arg118His
ENST00000472436.1:n.373G>A
NM_000030.2:c.353G>A	NP_000021.1:p.Arg118His
XR_924060.1:n.405+876C>T
NM_000030.3:c.353G>A MANE Select	NP_000021.1:p.Arg118His