Canonical Allele Identifier: CA275613

Gene: AGXT

Linked Data

• ClinVar Variation Id: 204065
• ClinVar RCV Id: RCV000186271 ; RCV001061218
• dbSNP Id: rs138584408
• ExAC: 2:241808284 T / C
• gnomAD v2: 2-241808284-T-C
• gnomAD v3: 2-240868867-T-C
• gnomAD v4: 2-240868867-T-C
• MyVariant Identifiers: chr2:g.241808284T>C (hg19) ; chr2:g.240868867T>C (hg38)
• PubMed: PMID:15365967

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240868867T>C , CM000664.2:g.240868867T>C	GRCh38
NC_000002.11:g.241808284T>C , CM000664.1:g.241808284T>C	GRCh37
NC_000002.10:g.241456957T>C	NCBI36
NG_008005.1:g.5123T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.2T>C MANE Select	ENSP00000302620.3:p.Met1Thr
ENST00000307503.3:c.2T>C	ENSP00000302620.3:p.Met1Thr
ENST00000472436.1:n.22T>C
NM_000030.2:c.2T>C	NP_000021.1:p.Met1Thr
XR_924060.1:n.405+1366A>G
NM_000030.3:c.2T>C MANE Select	NP_000021.1:p.Met1Thr