Canonical Allele Identifier: CA2209015

Gene: AGXT

Linked Data

• dbSNP Id: rs761784676
• ExAC: 2:241808544 G / A
• gnomAD v2: 2-241808544-G-A
• gnomAD v3: 2-240869127-G-A
• gnomAD v4: 2-240869127-G-A
• MyVariant Identifiers: chr2:g.241808544G>A (hg19) ; chr2:g.241808544_241808545delinsAA (hg19) ; chr2:g.240869127G>A (hg38) ; chr2:g.240869127_240869128delinsAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240869127G>A , CM000664.2:g.240869127G>A	GRCh38
NC_000002.11:g.241808544G>A , CM000664.1:g.241808544G>A	GRCh37
NC_000002.10:g.241457217G>A	NCBI36
NG_008005.1:g.5383G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.166-43G>A MANE Select	ENSP00000302620.3:n.166-43G>A
ENST00000307503.3:c.166-43G>A	ENSP00000302620.3:n.166-43G>A
ENST00000472436.1:n.186-43G>A
NM_000030.2:c.166-43G>A	NP_000021.1:n.166-43G>A
XR_924060.1:n.405+1106C>T
NM_000030.3:c.166-43G>A MANE Select	NP_000021.1:n.166-43G>A