Canonical Allele Identifier: CA999098680
Gene: PADI2 HGNC NCBI

Linked Data

dbSNP Id: rs771937014
gnomAD v3: 1-17117852-G-A
gnomAD v4: 1-17117852-G-A

Genomic Alleles

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

Transcript Alleles

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