Canonical Allele Identifier: CA18621665
Gene: PADI2 HGNC NCBI

Linked Data

dbSNP Id: rs771937014
gnomAD v2: 1-17444347-G-C
gnomAD v3: 1-17117852-G-C
gnomAD v4: 1-17117852-G-C
MyVariant Identifiers: chr1:g.17444347G>C (hg19) chr1:g.17117852G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17117852G>C , CM000663.2:g.17117852G>C GRCh38
NC_000001.10:g.17444347G>C , CM000663.1:g.17444347G>C GRCh37
NC_000001.9:g.17316934G>C NCBI36
NG_033958.1:g.6602C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375486.9:c.92+1428C>G MANE Select ENSP00000364635.4:n.92+1428C>G
ENST00000375481.1:c.92+1428C>G ENSP00000364630.1:n.92+1428C>G
ENST00000375486.8:c.92+1428C>G ENSP00000364635.4:n.92+1428C>G
NM_007365.2:c.92+1428C>G NP_031391.2:n.92+1428C>G
XM_011540549.1:c.92+1428C>G XP_011538851.1:n.92+1428C>G
XR_947004.1:n.4428G>C
XR_001736944.1:n.174+1428C>G
NM_007365.3:c.92+1428C>G MANE Select NP_031391.2:n.92+1428C>G
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