Canonical Allele Identifier: CA4839768

Gene: ZFPM2 ZFPM2-AS1

Linked Data

• ClinVar Variation Id: 696169
• ClinVar RCV Id: RCV000862357
• dbSNP Id: rs920629
• ExAC: 8:106813879 G / C
• gnomAD v2: 8-106813879-G-C
• gnomAD v3: 8-105801651-G-C
• gnomAD v4: 8-105801651-G-C
• MyVariant Identifiers: chr8:g.106813879G>C (hg19) ; chr8:g.105801651G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.105801651G>C , CM000670.2:g.105801651G>C	GRCh38
NC_000008.10:g.106813879G>C , CM000670.1:g.106813879G>C	GRCh37
NC_000008.9:g.106883055G>C	NCBI36
NG_011723.1:g.487733G>C
NG_011723.2:g.487733G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407775.7:c.1569G>C (ZFPM2) MANE Select	ENSP00000384179.2:p.Leu523=
ENST00000407775.6:c.1569G>C (ZFPM2)	ENSP00000384179.2:p.Leu523=
ENST00000517361.1:c.1173G>C (ZFPM2)	ENSP00000428720.1:p.Leu391=
ENST00000520492.5:c.1173G>C (ZFPM2)	ENSP00000430757.1:p.Leu391=
ENST00000522296.1:n.1363G>C (ZFPM2)
NM_012082.3:c.1569G>C (ZFPM2)	NP_036214.2:p.Leu523=
NR_125796.1:n.180-3209C>G (ZFPM2-AS1)
NR_125797.1:n.191-3209C>G (ZFPM2-AS1)
XM_011516946.1:c.1608G>C (ZFPM2)	XP_011515248.1:p.Leu536=
XM_011516947.1:c.1539G>C (ZFPM2)	XP_011515249.1:p.Leu513=
XM_011516948.1:c.1410G>C (ZFPM2)	XP_011515250.1:p.Leu470=
XM_011516949.1:c.1401G>C (ZFPM2)	XP_011515251.1:p.Leu467=
NM_001362836.1:c.1410G>C (ZFPM2)	NP_001349765.1:p.Leu470=
NM_001362837.1:c.1173G>C (ZFPM2)	NP_001349766.1:p.Leu391=
XM_011516947.3:c.1539G>C (ZFPM2)	XP_011515249.1:p.Leu513=
NM_012082.4:c.1569G>C (ZFPM2) MANE Select	NP_036214.2:p.Leu523=
NM_001362836.2:c.1410G>C (ZFPM2)	NP_001349765.1:p.Leu470=
NM_001362837.2:c.1173G>C (ZFPM2)	NP_001349766.1:p.Leu391=