Canonical Allele Identifier: CA18621677

Gene: PADI2

Linked Data

• dbSNP Id: rs931434070
• gnomAD v3: 1-17117907-G-A
• gnomAD v4: 1-17117907-G-A
• MyVariant Identifiers: chr1:g.17444402G>A (hg19) ; chr1:g.17117907G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17117907G>A , CM000663.2:g.17117907G>A	GRCh38
NC_000001.10:g.17444402G>A , CM000663.1:g.17444402G>A	GRCh37
NC_000001.9:g.17316989G>A	NCBI36
NG_033958.1:g.6547C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375486.9:c.92+1373C>T MANE Select	ENSP00000364635.4:n.92+1373C>T
ENST00000375481.1:c.92+1373C>T	ENSP00000364630.1:n.92+1373C>T
ENST00000375486.8:c.92+1373C>T	ENSP00000364635.4:n.92+1373C>T
NM_007365.2:c.92+1373C>T	NP_031391.2:n.92+1373C>T
XM_011540549.1:c.92+1373C>T	XP_011538851.1:n.92+1373C>T
XR_947004.1:n.4483G>A
XR_001736944.1:n.174+1373C>T
NM_007365.3:c.92+1373C>T MANE Select	NP_031391.2:n.92+1373C>T