Canonical Allele Identifier: CA46552465

Gene: PIGF

Linked Data

• dbSNP Id: rs3768725
• gnomAD v2: 2-46820802-G-C
• gnomAD v3: 2-46593663-G-C
• gnomAD v4: 2-46593663-G-C
• MyVariant Identifiers: chr2:g.46820802G>C (hg19) ; chr2:g.46593663G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46593663G>C , CM000664.2:g.46593663G>C	GRCh38
NC_000002.11:g.46820802G>C , CM000664.1:g.46820802G>C	GRCh37
NC_000002.10:g.46674306G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000281382.11:c.438-1080C>G MANE Select	ENSP00000281382.6:n.438-1080C>G
ENST00000281382.10:c.438-1080C>G	ENSP00000281382.6:n.438-1080C>G
ENST00000306465.8:c.438-1080C>G	ENSP00000302663.4:n.438-1080C>G
ENST00000412717.1:c.*7-1080C>G	ENSP00000413202.1:n.*7-1080C>G
ENST00000420164.5:c.48-1080C>G	ENSP00000410361.1:n.48-1080C>G
NM_002643.3:c.438-1080C>G	NP_002634.1:n.438-1080C>G
NM_173074.2:c.438-1080C>G	NP_775097.1:n.438-1080C>G
XM_005264369.2:c.438-1080C>G	XP_005264426.1:n.438-1080C>G
XM_011532908.1:c.438-1080C>G	XP_011531210.1:n.438-1080C>G
XM_005264369.3:c.438-1080C>G	XP_005264426.1:n.438-1080C>G
XM_011532908.3:c.438-1080C>G	XP_011531210.1:n.438-1080C>G
NM_002643.4:c.438-1080C>G MANE Select	NP_002634.1:n.438-1080C>G
NM_173074.3:c.438-1080C>G	NP_775097.1:n.438-1080C>G