Canonical Allele Identifier: CA170935

Gene: ZFPM2 ZFPM2-AS1

Linked Data

• ClinVar Variation Id: 39518
• ClinVar RCV Id: RCV000032716 ; RCV000514546 ; RCV003974865 ; RCV000144723 ; RCV000455350 ; RCV001007702
• dbSNP Id: rs187043152
• ExAC: 8:106813942 G / A
• gnomAD v2: 8-106813942-G-A
• gnomAD v3: 8-105801714-G-A
• gnomAD v4: 8-105801714-G-A
• MyVariant Identifiers: chr8:g.106813942G>A (hg19) ; chr8:g.105801714G>A (hg38)
• PubMed: PMID:20807224 ; PMID:24549039

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.105801714G>A , CM000670.2:g.105801714G>A	GRCh38
NC_000008.10:g.106813942G>A , CM000670.1:g.106813942G>A	GRCh37
NC_000008.9:g.106883118G>A	NCBI36
NG_011723.1:g.487796G>A
NG_011723.2:g.487796G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407775.7:c.1632G>A (ZFPM2) MANE Select	ENSP00000384179.2:p.Met544Ile
ENST00000407775.6:c.1632G>A (ZFPM2)	ENSP00000384179.2:p.Met544Ile
ENST00000517361.1:c.1236G>A (ZFPM2)	ENSP00000428720.1:p.Met412Ile
ENST00000520492.5:c.1236G>A (ZFPM2)	ENSP00000430757.1:p.Met412Ile
ENST00000522296.1:n.1426G>A (ZFPM2)
NM_012082.3:c.1632G>A (ZFPM2)	NP_036214.2:p.Met544Ile
NR_125796.1:n.180-3272C>T (ZFPM2-AS1)
NR_125797.1:n.191-3272C>T (ZFPM2-AS1)
XM_011516946.1:c.1671G>A (ZFPM2)	XP_011515248.1:p.Met557Ile
XM_011516947.1:c.1602G>A (ZFPM2)	XP_011515249.1:p.Met534Ile
XM_011516948.1:c.1473G>A (ZFPM2)	XP_011515250.1:p.Met491Ile
XM_011516949.1:c.1464G>A (ZFPM2)	XP_011515251.1:p.Met488Ile
NM_001362836.1:c.1473G>A (ZFPM2)	NP_001349765.1:p.Met491Ile
NM_001362837.1:c.1236G>A (ZFPM2)	NP_001349766.1:p.Met412Ile
XM_011516947.3:c.1602G>A (ZFPM2)	XP_011515249.1:p.Met534Ile
NM_012082.4:c.1632G>A (ZFPM2) MANE Select	NP_036214.2:p.Met544Ile
NM_001362836.2:c.1473G>A (ZFPM2)	NP_001349765.1:p.Met491Ile
NM_001362837.2:c.1236G>A (ZFPM2)	NP_001349766.1:p.Met412Ile