Canonical Allele Identifier: CA2209013
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs764228128
ExAC: 2:241808539 T / A
gnomAD v2: 2-241808539-T-A
gnomAD v4: 2-240869122-T-A
MyVariant Identifiers: chr2:g.241808539T>A (hg19) chr2:g.241808539_241808547delinsATGGGGAGG (hg19) chr2:g.240869122T>A (hg38) chr2:g.240869122_240869130delinsATGGGGAGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869122T>A , CM000664.2:g.240869122T>A GRCh38
NC_000002.11:g.241808539T>A , CM000664.1:g.241808539T>A GRCh37
NC_000002.10:g.241457212T>A NCBI36
NG_008005.1:g.5378T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.166-48T>A MANE Select ENSP00000302620.3:n.166-48T>A
ENST00000307503.3:c.166-48T>A ENSP00000302620.3:n.166-48T>A
ENST00000472436.1:n.186-48T>A
NM_000030.2:c.166-48T>A NP_000021.1:n.166-48T>A
XR_924060.1:n.405+1111A>T
NM_000030.3:c.166-48T>A MANE Select NP_000021.1:n.166-48T>A
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