Canonical Allele Identifier: CA275558

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204025
• ClinVar RCV Id: RCV000186229
• dbSNP Id: rs58120546
• ExAC: 2:241808491 T / A
• gnomAD v2: 2-241808491-T-A
• gnomAD v3: 2-240869074-T-A
• gnomAD v4: 2-240869074-T-A
• MyVariant Identifiers: chr2:g.241808491T>A (hg19) ; chr2:g.240869074T>A (hg38)
• PubMed: PMID:19479957

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869074T>A , CM000664.2:g.240869074T>A	GRCh38
NC_000002.11:g.241808491T>A , CM000664.1:g.241808491T>A	GRCh37
NC_000002.10:g.241457164T>A	NCBI36
NG_008005.1:g.5330T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.165+44T>A MANE Select	ENSP00000302620.3:n.165+44T>A
ENST00000307503.3:c.165+44T>A	ENSP00000302620.3:n.165+44T>A
ENST00000472436.1:n.185+44T>A
NM_000030.2:c.165+44T>A	NP_000021.1:n.165+44T>A
XR_924060.1:n.405+1159A>T
NM_000030.3:c.165+44T>A MANE Select	NP_000021.1:n.165+44T>A