Canonical Allele Identifier: CA274058

Gene: AGXT

Linked Data

• ClinVar Variation Id: 188866
• ClinVar RCV Id: RCV000169219 ; RCV001850392
• dbSNP Id: rs180177195
• ExAC: 2:241808723 T / C
• gnomAD v2: 2-241808723-T-C
• gnomAD v3: 2-240869306-T-C
• gnomAD v4: 2-240869306-T-C
• MyVariant Identifiers: chr2:g.241808723T>C (hg19) ; chr2:g.240869306T>C (hg38)
• PubMed: PMID:18810341 ; PMID:19479957 ; PMID:23439734 ; PMID:23861508

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869306T>C , CM000664.2:g.240869306T>C	GRCh38
NC_000002.11:g.241808723T>C , CM000664.1:g.241808723T>C	GRCh37
NC_000002.10:g.241457396T>C	NCBI36
NG_008005.1:g.5562T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.302T>C MANE Select	ENSP00000302620.3:p.Leu101Pro
ENST00000307503.3:c.302T>C	ENSP00000302620.3:p.Leu101Pro
ENST00000472436.1:n.322T>C
NM_000030.2:c.302T>C	NP_000021.1:p.Leu101Pro
XR_924060.1:n.405+927A>G
NM_000030.3:c.302T>C MANE Select	NP_000021.1:p.Leu101Pro