Canonical Allele Identifier: CA2208974

Gene: AGXT

Linked Data

• ClinVar Variation Id: 957713
• ClinVar RCV Id: RCV001230740 ; RCV001833997
• dbSNP Id: rs754037121
• ExAC: 2:241808352 C / A
• gnomAD v2: 2-241808352-C-A
• gnomAD v3: 2-240868935-C-A
• gnomAD v4: 2-240868935-C-A
• MyVariant Identifiers: chr2:g.241808352C>A (hg19) ; chr2:g.240868935C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240868935C>A , CM000664.2:g.240868935C>A	GRCh38
NC_000002.11:g.241808352C>A , CM000664.1:g.241808352C>A	GRCh37
NC_000002.10:g.241457025C>A	NCBI36
NG_008005.1:g.5191C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.70C>A MANE Select	ENSP00000302620.3:p.Leu24Ile
ENST00000307503.3:c.70C>A	ENSP00000302620.3:p.Leu24Ile
ENST00000472436.1:n.90C>A
NM_000030.2:c.70C>A	NP_000021.1:p.Leu24Ile
XR_924060.1:n.405+1298G>T
NM_000030.3:c.70C>A MANE Select	NP_000021.1:p.Leu24Ile