Canonical Allele Identifier: CA18621660
Gene: PADI2 HGNC NCBI

Linked Data

dbSNP Id: rs747964900
gnomAD v2: 1-17444341-C-G
gnomAD v3: 1-17117846-C-G
gnomAD v4: 1-17117846-C-G
MyVariant Identifiers: chr1:g.17444341C>G (hg19) chr1:g.17117846C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17117846C>G , CM000663.2:g.17117846C>G GRCh38
NC_000001.10:g.17444341C>G , CM000663.1:g.17444341C>G GRCh37
NC_000001.9:g.17316928C>G NCBI36
NG_033958.1:g.6608G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375486.9:c.92+1434G>C MANE Select ENSP00000364635.4:n.92+1434G>C
ENST00000375481.1:c.92+1434G>C ENSP00000364630.1:n.92+1434G>C
ENST00000375486.8:c.92+1434G>C ENSP00000364635.4:n.92+1434G>C
NM_007365.2:c.92+1434G>C NP_031391.2:n.92+1434G>C
XM_011540549.1:c.92+1434G>C XP_011538851.1:n.92+1434G>C
XR_947004.1:n.4422C>G
XR_001736944.1:n.174+1434G>C
NM_007365.3:c.92+1434G>C MANE Select NP_031391.2:n.92+1434G>C
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