Canonical Allele Identifier: CA18621798
Gene: PADI2 HGNC NCBI

Linked Data

dbSNP Id: rs958073391
gnomAD v2: 1-17444618-T-A
gnomAD v3: 1-17118123-T-A
gnomAD v4: 1-17118123-T-A
MyVariant Identifiers: chr1:g.17444618T>A (hg19) chr1:g.17118123T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17118123T>A , CM000663.2:g.17118123T>A GRCh38
NC_000001.10:g.17444618T>A , CM000663.1:g.17444618T>A GRCh37
NC_000001.9:g.17317205T>A NCBI36
NG_033958.1:g.6331A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375486.9:c.92+1157A>T MANE Select ENSP00000364635.4:n.92+1157A>T
ENST00000375481.1:c.92+1157A>T ENSP00000364630.1:n.92+1157A>T
ENST00000375486.8:c.92+1157A>T ENSP00000364635.4:n.92+1157A>T
NM_007365.2:c.92+1157A>T NP_031391.2:n.92+1157A>T
XM_011540549.1:c.92+1157A>T XP_011538851.1:n.92+1157A>T
XR_947004.1:n.4699T>A
XR_001736944.1:n.174+1157A>T
NM_007365.3:c.92+1157A>T MANE Select NP_031391.2:n.92+1157A>T
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