Canonical Allele Identifier: CA558976623

Gene: AGXT2

Linked Data

• dbSNP Id: rs1309052909
• gnomAD v2: 5-34998776-T-TA
• gnomAD v4: 5-34998671-T-TA
• MyVariant Identifiers: chr5:g.34998776_34998777insA (hg19) ; chr5:g.34998671_34998672insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34998672dup , CM000667.2:g.34998672dup	GRCh38
NC_000005.9:g.34998777dup , CM000667.1:g.34998777dup	GRCh37
NC_000005.8:g.35034534dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000231420.11:c.*47dup MANE Select	ENSP00000231420.6:n.*47dup
ENST00000231420.10:c.*47dup	ENSP00000231420.6:n.*47dup
ENST00000510428.1:c.*45+2dup	ENSP00000422799.1:n.*45+2dup
ENST00000512135.5:n.1262dup
ENST00000618015.4:c.*47dup	ENSP00000479154.1:n.*47dup
NM_001306173.1:c.*45+2dup	NP_001293102.1:n.*45+2dup
NM_031900.3:c.*47dup	NP_114106.1:n.*47dup
XM_005248337.2:c.*47dup	XP_005248394.1:n.*47dup
XM_005248338.2:c.*47dup	XP_005248395.1:n.*47dup
XM_011514077.1:c.1438-270dup	XP_011512379.1:n.1438-270dup
XM_005248337.3:c.*47dup	XP_005248394.1:n.*47dup
XM_005248338.3:c.*47dup	XP_005248395.1:n.*47dup
XM_017009748.2:c.*47dup	XP_016865237.1:n.*47dup
NM_031900.4:c.*47dup MANE Select	NP_114106.1:n.*47dup
NM_001306173.2:c.*45+2dup	NP_001293102.1:n.*45+2dup