Canonical Allele Identifier: CA68180570
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2905068
ClinVar RCV Id: RCV003729542
dbSNP Id: rs376822576
gnomAD v2: 2-241816937-C-T
gnomAD v3: 2-240877520-C-T
gnomAD v4: 2-240877520-C-T
MyVariant Identifiers: chr2:g.241816937C>T (hg19) chr2:g.240877520C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877520C>T , CM000664.2:g.240877520C>T GRCh38
NC_000002.11:g.241816937C>T , CM000664.1:g.241816937C>T GRCh37
NC_000002.10:g.241465610C>T NCBI36
NG_008005.1:g.13776C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.847-17C>T MANE Select ENSP00000302620.3:n.847-17C>T
ENST00000307503.3:c.847-17C>T ENSP00000302620.3:n.847-17C>T
ENST00000470255.1:n.608C>T
NM_000030.2:c.847-17C>T NP_000021.1:n.847-17C>T
NM_000030.3:c.847-17C>T MANE Select NP_000021.1:n.847-17C>T
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