Canonical Allele Identifier: CA235279

Gene: ZNF513

Linked Data

• ClinVar Variation Id: 167864
• ClinVar RCV Id: RCV000154164 ; RCV000765663 ; RCV001140115
• dbSNP Id: rs61742428
• ExAC: 2:27601352 C / T
• gnomAD v2: 2-27601352-C-T
• gnomAD v3: 2-27378485-C-T
• gnomAD v4: 2-27378485-C-T
• MyVariant Identifiers: chr2:g.27601352C>T (hg19) ; chr2:g.27378485C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27378485C>T , CM000664.2:g.27378485C>T	GRCh38
NC_000002.11:g.27601352C>T , CM000664.1:g.27601352C>T	GRCh37
NC_000002.10:g.27454856C>T	NCBI36
NG_028219.1:g.7260G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323703.11:c.781G>A MANE Select	ENSP00000318373.6:p.Val261Met
ENST00000323703.10:c.781G>A	ENSP00000318373.6:p.Val261Met
ENST00000407879.1:c.595G>A	ENSP00000384874.1:p.Val199Met
ENST00000491924.1:n.241G>A
NM_001201459.1:c.595G>A	NP_001188388.1:p.Val199Met
NM_144631.5:c.781G>A	NP_653232.3:p.Val261Met
XM_005264142.1:c.595G>A	XP_005264199.1:p.Val199Met
XM_005264143.2:c.277G>A	XP_005264200.1:p.Val93Met
XM_005264142.2:c.595G>A	XP_005264199.1:p.Val199Met
XM_005264143.3:c.277G>A	XP_005264200.1:p.Val93Met
NM_144631.6:c.781G>A MANE Select	NP_653232.3:p.Val261Met
NM_001201459.2:c.595G>A	NP_001188388.1:p.Val199Met