Canonical Allele Identifier: CA3228908

Gene: AGXT2

Linked Data

• dbSNP Id: rs16899972
• ExAC: 5:34998778 C / A
• gnomAD v2: 5-34998778-C-A
• gnomAD v3: 5-34998673-C-A
• gnomAD v4: 5-34998673-C-A
• MyVariant Identifiers: chr5:g.34998778C>A (hg19) ; chr5:g.34998673C>A (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998673C>A , CM000667.2:g.34998673C>A	GRCh38
NC_000005.9:g.34998778C>A , CM000667.1:g.34998778C>A	GRCh37
NC_000005.8:g.35034535C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000231420.11:c.*46G>T MANE Select	ENSP00000231420.6:n.*46G>T
ENST00000231420.10:c.*46G>T	ENSP00000231420.6:n.*46G>T
ENST00000510428.1:c.*45+1G>T	ENSP00000422799.1:n.*45+1G>T
ENST00000512135.5:n.1261G>T
ENST00000618015.4:c.*46G>T	ENSP00000479154.1:n.*46G>T
NM_001306173.1:c.*45+1G>T	NP_001293102.1:n.*45+1G>T
NM_031900.3:c.*46G>T	NP_114106.1:n.*46G>T
XM_005248337.2:c.*46G>T	XP_005248394.1:n.*46G>T
XM_005248338.2:c.*46G>T	XP_005248395.1:n.*46G>T
XM_011514077.1:c.1438-271G>T	XP_011512379.1:n.1438-271G>T
XM_005248337.3:c.*46G>T	XP_005248394.1:n.*46G>T
XM_005248338.3:c.*46G>T	XP_005248395.1:n.*46G>T
XM_017009748.2:c.*46G>T	XP_016865237.1:n.*46G>T
NM_031900.4:c.*46G>T MANE Select	NP_114106.1:n.*46G>T
NM_001306173.2:c.*45+1G>T	NP_001293102.1:n.*45+1G>T