Canonical Allele Identifier: CA351313537
Gene: AGXT HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.240869251C>A
GRCh37 chr2:g.241808668C>A
Revel Score:
ENST00000307503 (MANE Select) 0.676
gnomAD v3:
2:240869251 C / A
gnomAD v4:
chr2-240869251-C-A
Joint Max Group AF 2.8e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869251C>A , CM000664.2:g.240869251C>A GRCh38
NC_000002.11:g.241808668C>A , CM000664.1:g.241808668C>A GRCh37
NC_000002.10:g.241457341C>A NCBI36
NG_008005.1:g.5507C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.247C>A MANE Select ENSP00000302620.3:p.His83Asn
ENST00000307503.3:c.247C>A ENSP00000302620.3:p.His83Asn
ENST00000472436.1:n.267C>A
NM_000030.2:c.247C>A NP_000021.1:p.His83Asn
XR_924060.1:n.405+982G>T
NM_000030.3:c.247C>A MANE Select NP_000021.1:p.His83Asn
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