Canonical Allele Identifier: CA68181110

Gene: AGXT

Linked Data

• ClinVar Variation Id: 2556001
• ClinVar RCV Id: RCV003277953
• dbSNP Id: rs943335449
• gnomAD v2: 2-241818212-C-A
• gnomAD v3: 2-240878795-C-A
• gnomAD v4: 2-240878795-C-A
• MyVariant Identifiers: chr2:g.241818212C>A (hg19) ; chr2:g.240878795C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240878795C>A , CM000664.2:g.240878795C>A	GRCh38
NC_000002.11:g.241818212C>A , CM000664.1:g.241818212C>A	GRCh37
NC_000002.10:g.241466885C>A	NCBI36
NG_008005.1:g.15051C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.1153C>A MANE Select	ENSP00000302620.3:p.Gln385Lys
ENST00000307503.3:c.1153C>A	ENSP00000302620.3:p.Gln385Lys
ENST00000470255.1:n.931C>A
NM_000030.2:c.1153C>A	NP_000021.1:p.Gln385Lys
NM_000030.3:c.1153C>A MANE Select	NP_000021.1:p.Gln385Lys