Canonical Allele Identifier: CA891063747

Gene: PADI2

Linked Data

• dbSNP Id: rs991417481
• gnomAD v3: 1-17118116-G-C
• gnomAD v4: 1-17118116-G-C
• MyVariant Identifiers: chr1:g.17444611G>C (hg19) ; chr1:g.17118116G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17118116G>C , CM000663.2:g.17118116G>C	GRCh38
NC_000001.10:g.17444611G>C , CM000663.1:g.17444611G>C	GRCh37
NC_000001.9:g.17317198G>C	NCBI36
NG_033958.1:g.6338C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375486.9:c.92+1164C>G MANE Select	ENSP00000364635.4:n.92+1164C>G
ENST00000375481.1:c.92+1164C>G	ENSP00000364630.1:n.92+1164C>G
ENST00000375486.8:c.92+1164C>G	ENSP00000364635.4:n.92+1164C>G
NM_007365.2:c.92+1164C>G	NP_031391.2:n.92+1164C>G
XM_011540549.1:c.92+1164C>G	XP_011538851.1:n.92+1164C>G
XR_947004.1:n.4692G>C
XR_001736944.1:n.174+1164C>G
NM_007365.3:c.92+1164C>G MANE Select	NP_031391.2:n.92+1164C>G