Canonical Allele Identifier: CA2209250

Gene: AGXT

Linked Data

• dbSNP Id: rs372837352
• ExAC: 2:241815317 C / T
• gnomAD v2: 2-241815317-C-T
• gnomAD v3: 2-240875900-C-T
• gnomAD v4: 2-240875900-C-T
• MyVariant Identifiers: chr2:g.241815317C>T (hg19) ; chr2:g.240875900C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240875900C>T , CM000664.2:g.240875900C>T	GRCh38
NC_000002.11:g.241815317C>T , CM000664.1:g.241815317C>T	GRCh37
NC_000002.10:g.241463990C>T	NCBI36
NG_008005.1:g.12156C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.777-35C>T MANE Select	ENSP00000302620.3:n.777-35C>T
ENST00000307503.3:c.777-35C>T	ENSP00000302620.3:n.777-35C>T
ENST00000476698.1:n.429-35C>T
NM_000030.2:c.777-35C>T	NP_000021.1:n.777-35C>T
NM_000030.3:c.777-35C>T MANE Select	NP_000021.1:n.777-35C>T