Canonical Allele Identifier: CA2209227

Gene: AGXT

Linked Data

• dbSNP Id: rs773960979
• ExAC: 2:241814603 G / C
• gnomAD v2: 2-241814603-G-C
• gnomAD v3: 2-240875186-G-C
• gnomAD v4: 2-240875186-G-C
• MyVariant Identifiers: chr2:g.241814603G>C (hg19) ; chr2:g.240875186G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240875186G>C , CM000664.2:g.240875186G>C	GRCh38
NC_000002.11:g.241814603G>C , CM000664.1:g.241814603G>C	GRCh37
NC_000002.10:g.241463276G>C	NCBI36
NG_008005.1:g.11442G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307503.4:c.758G>C MANE Select	ENSP00000302620.3:p.Cys253Ser
ENST00000307503.3:c.758G>C	ENSP00000302620.3:p.Cys253Ser
ENST00000476698.1:n.410G>C
NM_000030.2:c.758G>C	NP_000021.1:p.Cys253Ser
NM_000030.3:c.758G>C MANE Select	NP_000021.1:p.Cys253Ser