Canonical Allele Identifier: CA10764228
Gene: PADI2 HGNC NCBI
COSMIC:
COSN6509179 (not active)
MyVariant.info:
GRCh38 chr1:g.17118274G>T
GRCh37 chr1:g.17444769G>T
gnomAD v2:
1:17444769 G / T
gnomAD v3:
1:17118274 G / T
gnomAD v4:
chr1-17118274-G-T
Joint Max Group AF 0.8499249 (EAS)
Genomes Max Group AF 0.8499249 (EAS)
ClinVar RCV:
RCV001249178
ClinVar Variation:
972891
dbSNP:
1005753
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17118274G>T , CM000663.2:g.17118274G>T GRCh38
NC_000001.10:g.17444769G>T , CM000663.1:g.17444769G>T GRCh37
NC_000001.9:g.17317356G>T NCBI36
NG_033958.1:g.6180C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375486.9:c.92+1006C>A MANE Select ENSP00000364635.4:n.92+1006C>A
ENST00000375481.1:c.92+1006C>A ENSP00000364630.1:n.92+1006C>A
ENST00000375486.8:c.92+1006C>A ENSP00000364635.4:n.92+1006C>A
NM_007365.2:c.92+1006C>A NP_031391.2:n.92+1006C>A
XM_011540549.1:c.92+1006C>A XP_011538851.1:n.92+1006C>A
XR_947004.1:n.4850G>T
XR_001736944.1:n.174+1006C>A
NM_007365.3:c.92+1006C>A MANE Select NP_031391.2:n.92+1006C>A
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