Canonical Allele Identifier: CA2208992

Gene: AGXT

Linked Data

• ClinVar Variation Id: 335294
• ClinVar RCV Id: RCV000292295 ; RCV003718211
• dbSNP Id: rs201989825
• ExAC: 2:241808459 G / C
• gnomAD v2: 2-241808459-G-C
• gnomAD v3: 2-240869042-G-C
• gnomAD v4: 2-240869042-G-C
• MyVariant Identifiers: chr2:g.241808459G>C (hg19) ; chr2:g.240869042G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869042G>C , CM000664.2:g.240869042G>C	GRCh38
NC_000002.11:g.241808459G>C , CM000664.1:g.241808459G>C	GRCh37
NC_000002.10:g.241457132G>C	NCBI36
NG_008005.1:g.5298G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.165+12G>C MANE Select	ENSP00000302620.3:n.165+12G>C
ENST00000307503.3:c.165+12G>C	ENSP00000302620.3:n.165+12G>C
ENST00000472436.1:n.185+12G>C
NM_000030.2:c.165+12G>C	NP_000021.1:n.165+12G>C
XR_924060.1:n.405+1191C>G
NM_000030.3:c.165+12G>C MANE Select	NP_000021.1:n.165+12G>C