Canonical Allele Identifier: CA540752878
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v2: 2-241808466-C-CG
gnomAD v4: 2-240869049-C-CG
MyVariant Identifiers: chr2:g.241808466_241808467insG (hg19) chr2:g.240869049_240869050insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869055dup , CM000664.2:g.240869055dup GRCh38
NC_000002.11:g.241808472dup , CM000664.1:g.241808472dup GRCh37
NC_000002.10:g.241457145dup NCBI36
NG_008005.1:g.5311dup

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.165+25dup MANE Select ENSP00000302620.3:n.165+25dup
ENST00000307503.3:c.165+25dup ENSP00000302620.3:n.165+25dup
ENST00000472436.1:n.185+25dup
NM_000030.2:c.165+25dup NP_000021.1:n.165+25dup
XR_924060.1:n.405+1183dup
NM_000030.3:c.165+25dup MANE Select NP_000021.1:n.165+25dup
Search 100 bp 5'
Search 100 bp 3'