Canonical Allele Identifier: CA891063765

Gene: PADI2

Linked Data

• dbSNP Id: rs1259690868
• gnomAD v3: 1-17118169-G-T
• gnomAD v4: 1-17118169-G-T
• MyVariant Identifiers: chr1:g.17444664G>T (hg19) ; chr1:g.17118169G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17118169G>T , CM000663.2:g.17118169G>T	GRCh38
NC_000001.10:g.17444664G>T , CM000663.1:g.17444664G>T	GRCh37
NC_000001.9:g.17317251G>T	NCBI36
NG_033958.1:g.6285C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375486.9:c.92+1111C>A MANE Select	ENSP00000364635.4:n.92+1111C>A
ENST00000375481.1:c.92+1111C>A	ENSP00000364630.1:n.92+1111C>A
ENST00000375486.8:c.92+1111C>A	ENSP00000364635.4:n.92+1111C>A
NM_007365.2:c.92+1111C>A	NP_031391.2:n.92+1111C>A
XM_011540549.1:c.92+1111C>A	XP_011538851.1:n.92+1111C>A
XR_947004.1:n.4745G>T
XR_001736944.1:n.174+1111C>A
NM_007365.3:c.92+1111C>A MANE Select	NP_031391.2:n.92+1111C>A