Canonical Allele Identifier: CA2208983

Gene: AGXT

Linked Data

• dbSNP Id: rs768181954
• ExAC: 2:241808410 T / A
• gnomAD v2: 2-241808410-T-A
• gnomAD v3: 2-240868993-T-A
• gnomAD v4: 2-240868993-T-A
• MyVariant Identifiers: chr2:g.241808410T>A (hg19) ; chr2:g.240868993T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240868993T>A , CM000664.2:g.240868993T>A	GRCh38
NC_000002.11:g.241808410T>A , CM000664.1:g.241808410T>A	GRCh37
NC_000002.10:g.241457083T>A	NCBI36
NG_008005.1:g.5249T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.128T>A MANE Select	ENSP00000302620.3:p.Leu43Gln
ENST00000307503.3:c.128T>A	ENSP00000302620.3:p.Leu43Gln
ENST00000472436.1:n.148T>A
NM_000030.2:c.128T>A	NP_000021.1:p.Leu43Gln
XR_924060.1:n.405+1240A>T
NM_000030.3:c.128T>A MANE Select	NP_000021.1:p.Leu43Gln