Canonical Allele Identifier: CA2208956

Gene: AGXT

Linked Data

• dbSNP Id: rs770657173
• ExAC: 2:241808275 T / G
• gnomAD v2: 2-241808275-T-G
• gnomAD v4: 2-240868858-T-G
• MyVariant Identifiers: chr2:g.241808275T>G (hg19) ; chr2:g.240868858T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240868858T>G , CM000664.2:g.240868858T>G	GRCh38
NC_000002.11:g.241808275T>G , CM000664.1:g.241808275T>G	GRCh37
NC_000002.10:g.241456948T>G	NCBI36
NG_008005.1:g.5114T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.-8T>G MANE Select	ENSP00000302620.3:n.-8T>G
ENST00000307503.3:c.-8T>G	ENSP00000302620.3:n.-8T>G
ENST00000472436.1:n.13T>G
NM_000030.2:c.-8T>G	NP_000021.1:n.-8T>G
XR_924060.1:n.405+1375A>C
NM_000030.3:c.-8T>G MANE Select	NP_000021.1:n.-8T>G