Canonical Allele Identifier: CA432024411
Gene: AGXT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.241814586G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875169G>C , CM000664.2:g.240875169G>C GRCh38
NC_000002.11:g.241814586G>C , CM000664.1:g.241814586G>C GRCh37
NC_000002.10:g.241463259G>C NCBI36
NG_008005.1:g.11425G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.741G>C MANE Select ENSP00000302620.3:p.Leu247=
ENST00000307503.3:c.741G>C ENSP00000302620.3:p.Leu247=
ENST00000476698.1:n.393G>C
NM_000030.2:c.741G>C NP_000021.1:p.Leu247=
NM_000030.3:c.741G>C MANE Select NP_000021.1:p.Leu247=