Canonical Allele Identifier: CA521026974
Gene: PADI2 HGNC NCBI

Linked Data

dbSNP Id: rs1203426298
gnomAD v2: 1-17444586-G-T
gnomAD v3: 1-17118091-G-T
gnomAD v4: 1-17118091-G-T
MyVariant Identifiers: chr1:g.17444586G>T (hg19) chr1:g.17118091G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17118091G>T , CM000663.2:g.17118091G>T GRCh38
NC_000001.10:g.17444586G>T , CM000663.1:g.17444586G>T GRCh37
NC_000001.9:g.17317173G>T NCBI36
NG_033958.1:g.6363C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375486.9:c.92+1189C>A MANE Select ENSP00000364635.4:n.92+1189C>A
ENST00000375481.1:c.92+1189C>A ENSP00000364630.1:n.92+1189C>A
ENST00000375486.8:c.92+1189C>A ENSP00000364635.4:n.92+1189C>A
NM_007365.2:c.92+1189C>A NP_031391.2:n.92+1189C>A
XM_011540549.1:c.92+1189C>A XP_011538851.1:n.92+1189C>A
XR_947004.1:n.4667G>T
XR_001736944.1:n.174+1189C>A
NM_007365.3:c.92+1189C>A MANE Select NP_031391.2:n.92+1189C>A
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