Canonical Allele Identifier: CA767361163

Gene: ZNF512

Linked Data

• dbSNP Id: rs13022873
• gnomAD v3: 2-27592643-A-T
• gnomAD v4: 2-27592643-A-T
• MyVariant Identifiers: chr2:g.27815510A>T (hg19) ; chr2:g.27592643A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27592643A>T , CM000664.2:g.27592643A>T	GRCh38
NC_000002.11:g.27815510A>T , CM000664.1:g.27815510A>T	GRCh37
NC_000002.10:g.27669014A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000355467.6:c.90-5424A>T MANE Select	ENSP00000347648.3:n.90-5424A>T
ENST00000355467.5:c.90-5424A>T	ENSP00000347648.3:n.90-5424A>T
ENST00000379717.5:c.90-5427A>T	ENSP00000369040.1:n.90-5427A>T
ENST00000413371.6:c.-142-5424A>T	ENSP00000395660.2:n.-142-5424A>T
ENST00000416005.6:c.90-5427A>T	ENSP00000407038.2:n.90-5427A>T
ENST00000461705.1:n.434-5424A>T
ENST00000494548.1:n.100-5424A>T
ENST00000556601.5:c.-142-5424A>T	ENSP00000451572.2:n.-142-5424A>T
NM_001271286.1:c.90-5427A>T	NP_001258215.1:n.90-5427A>T
NM_001271287.1:c.-142-5424A>T	NP_001258216.1:n.-142-5424A>T
NM_001271288.1:c.-139-5427A>T	NP_001258217.1:n.-139-5427A>T
NM_001271289.1:c.-142-5424A>T	NP_001258218.1:n.-142-5424A>T
NM_001271318.1:c.-142-5424A>T	NP_001258247.1:n.-142-5424A>T
NM_032434.3:c.90-5424A>T	NP_115810.2:n.90-5424A>T
NM_032434.4:c.90-5424A>T MANE Select	NP_115810.2:n.90-5424A>T
NM_001271286.2:c.90-5427A>T	NP_001258215.1:n.90-5427A>T
NM_001271287.2:c.-142-5424A>T	NP_001258216.1:n.-142-5424A>T
NM_001271288.2:c.-139-5427A>T	NP_001258217.1:n.-139-5427A>T
NM_001271289.2:c.-142-5424A>T	NP_001258218.1:n.-142-5424A>T
NM_001271318.2:c.-142-5424A>T	NP_001258247.1:n.-142-5424A>T