Canonical Allele Identifier: CA4839779

Gene: ZFPM2 ZFPM2-AS1

Linked Data

• ClinVar Variation Id: 805890
• ClinVar RCV Id: RCV001007697 ; RCV001492996 ; RCV001531088
• dbSNP Id: rs575054307
• ExAC: 8:106813922 G / A
• gnomAD v2: 8-106813922-G-A
• gnomAD v3: 8-105801694-G-A
• gnomAD v4: 8-105801694-G-A
• COSMIC: COSM1233428
• MyVariant Identifiers: chr8:g.106813922G>A (hg19) ; chr8:g.105801694G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.105801694G>A , CM000670.2:g.105801694G>A	GRCh38
NC_000008.10:g.106813922G>A , CM000670.1:g.106813922G>A	GRCh37
NC_000008.9:g.106883098G>A	NCBI36
NG_011723.1:g.487776G>A
NG_011723.2:g.487776G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407775.7:c.1612G>A (ZFPM2) MANE Select	ENSP00000384179.2:p.Val538Ile
ENST00000407775.6:c.1612G>A (ZFPM2)	ENSP00000384179.2:p.Val538Ile
ENST00000517361.1:c.1216G>A (ZFPM2)	ENSP00000428720.1:p.Val406Ile
ENST00000520492.5:c.1216G>A (ZFPM2)	ENSP00000430757.1:p.Val406Ile
ENST00000522296.1:n.1406G>A (ZFPM2)
NM_012082.3:c.1612G>A (ZFPM2)	NP_036214.2:p.Val538Ile
NR_125796.1:n.180-3252C>T (ZFPM2-AS1)
NR_125797.1:n.191-3252C>T (ZFPM2-AS1)
XM_011516946.1:c.1651G>A (ZFPM2)	XP_011515248.1:p.Val551Ile
XM_011516947.1:c.1582G>A (ZFPM2)	XP_011515249.1:p.Val528Ile
XM_011516948.1:c.1453G>A (ZFPM2)	XP_011515250.1:p.Val485Ile
XM_011516949.1:c.1444G>A (ZFPM2)	XP_011515251.1:p.Val482Ile
NM_001362836.1:c.1453G>A (ZFPM2)	NP_001349765.1:p.Val485Ile
NM_001362837.1:c.1216G>A (ZFPM2)	NP_001349766.1:p.Val406Ile
XM_011516947.3:c.1582G>A (ZFPM2)	XP_011515249.1:p.Val528Ile
NM_012082.4:c.1612G>A (ZFPM2) MANE Select	NP_036214.2:p.Val538Ile
NM_001362836.2:c.1453G>A (ZFPM2)	NP_001349765.1:p.Val485Ile
NM_001362837.2:c.1216G>A (ZFPM2)	NP_001349766.1:p.Val406Ile