Canonical Allele Identifier: CA2209011
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs372597179
ExAC: 2:241808539 TTGGGGAGG / T
gnomAD v2: 2-241808539-TTGGGGAGG-T
gnomAD v3: 2-240869122-TTGGGGAGG-T
gnomAD v4: 2-240869122-TTGGGGAGG-T
MyVariant Identifiers: chr2:g.241808540_241808547del (hg19) chr2:g.240869123_240869130del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869123_240869130del , CM000664.2:g.240869123_240869130del GRCh38
NC_000002.11:g.241808540_241808547del , CM000664.1:g.241808540_241808547del GRCh37
NC_000002.10:g.241457213_241457220del NCBI36
NG_008005.1:g.5379_5386del

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.166-47_166-40del MANE Select ENSP00000302620.3:n.166-47_166-40del
ENST00000307503.3:c.166-47_166-40del ENSP00000302620.3:n.166-47_166-40del
ENST00000472436.1:n.186-47_186-40del
NM_000030.2:c.166-47_166-40del NP_000021.1:n.166-47_166-40del
XR_924060.1:n.405+1103_405+1110del
NM_000030.3:c.166-47_166-40del MANE Select NP_000021.1:n.166-47_166-40del
Search 100 bp 5'
Search 100 bp 3'