Canonical Allele Identifier: CA18621983

Gene: PADI2

Linked Data

• dbSNP Id: rs998614797
• gnomAD v2: 1-17444809-C-G
• gnomAD v3: 1-17118314-C-G
• gnomAD v4: 1-17118314-C-G
• MyVariant Identifiers: chr1:g.17444809C>G (hg19) ; chr1:g.17118314C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17118314C>G , CM000663.2:g.17118314C>G	GRCh38
NC_000001.10:g.17444809C>G , CM000663.1:g.17444809C>G	GRCh37
NC_000001.9:g.17317396C>G	NCBI36
NG_033958.1:g.6140G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375486.9:c.92+966G>C MANE Select	ENSP00000364635.4:n.92+966G>C
ENST00000375481.1:c.92+966G>C	ENSP00000364630.1:n.92+966G>C
ENST00000375486.8:c.92+966G>C	ENSP00000364635.4:n.92+966G>C
NM_007365.2:c.92+966G>C	NP_031391.2:n.92+966G>C
XM_011540549.1:c.92+966G>C	XP_011538851.1:n.92+966G>C
XR_947004.1:n.4890C>G
XR_001736944.1:n.174+966G>C
NM_007365.3:c.92+966G>C MANE Select	NP_031391.2:n.92+966G>C