Canonical Allele Identifier: CA6567977

Gene: TFCP2

Linked Data

• ClinVar Variation Id: 725865
• ClinVar RCV Id: RCV000899998 ; RCV003975719
• dbSNP Id: rs77417603
• ExAC: 12:51510213 T / A
• gnomAD v2: 12-51510213-T-A
• gnomAD v3: 12-51116430-T-A
• gnomAD v4: 12-51116430-T-A
• MyVariant Identifiers: chr12:g.51510213T>A (hg19) ; chr12:g.51116430T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51116430T>A , CM000674.2:g.51116430T>A	GRCh38
NC_000012.11:g.51510213T>A , CM000674.1:g.51510213T>A	GRCh37
NC_000012.10:g.49796480T>A	NCBI36
NG_029908.1:g.61714A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685804.1:c.*227-10A>T	ENSP00000509750.1:n.*227-10A>T
ENST00000257915.10:c.352-10A>T MANE Select	ENSP00000257915.5:n.352-10A>T
ENST00000257915.9:c.352-10A>T	ENSP00000257915.5:n.352-10A>T
ENST00000548108.1:c.58-10A>T	ENSP00000449280.1:n.58-10A>T
ENST00000548115.5:c.352-10A>T	ENSP00000447991.1:n.352-10A>T
ENST00000549867.5:c.352-10A>T	ENSP00000449742.1:n.352-10A>T
NM_001173452.1:c.352-10A>T	NP_001166923.1:n.352-10A>T
NM_001173453.1:c.352-10A>T	NP_001166924.1:n.352-10A>T
NM_005653.4:c.352-10A>T	NP_005644.2:n.352-10A>T
NM_001173452.2:c.352-10A>T	NP_001166923.1:n.352-10A>T
NM_001173453.2:c.352-10A>T	NP_001166924.1:n.352-10A>T
NM_005653.5:c.352-10A>T MANE Select	NP_005644.2:n.352-10A>T