Canonical Allele Identifier: CA18621727
Gene: PADI2 HGNC NCBI

Linked Data

dbSNP Id: rs143326760
gnomAD v2: 1-17444511-A-G
gnomAD v3: 1-17118016-A-G
gnomAD v4: 1-17118016-A-G
MyVariant Identifiers: chr1:g.17444511A>G (hg19) chr1:g.17118016A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17118016A>G , CM000663.2:g.17118016A>G GRCh38
NC_000001.10:g.17444511A>G , CM000663.1:g.17444511A>G GRCh37
NC_000001.9:g.17317098A>G NCBI36
NG_033958.1:g.6438T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375486.9:c.92+1264T>C MANE Select ENSP00000364635.4:n.92+1264T>C
ENST00000375481.1:c.92+1264T>C ENSP00000364630.1:n.92+1264T>C
ENST00000375486.8:c.92+1264T>C ENSP00000364635.4:n.92+1264T>C
NM_007365.2:c.92+1264T>C NP_031391.2:n.92+1264T>C
XM_011540549.1:c.92+1264T>C XP_011538851.1:n.92+1264T>C
XR_947004.1:n.4592A>G
XR_001736944.1:n.174+1264T>C
NM_007365.3:c.92+1264T>C MANE Select NP_031391.2:n.92+1264T>C
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