Allele Registry

Canonical Allele Identifier: CA16042309

Gene: TGFB2 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr1:g.218405241del

GRCh37 chr1:g.218578583del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000414052

ClinVar Variation:

373765

dbSNP:

1057518597

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218405241del , CM000663.2:g.218405241del	GRCh38
NC_000001.10:g.218578583del , CM000663.1:g.218578583del	GRCh37
NC_000001.9:g.216645206del	NCBI36
NG_027721.1:g.64908del
NG_027721.2:g.64908del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.419del MANE Select	ENSP00000355897.4:p.Asn140MetfsTer6
ENST00000366929.4:c.503del	ENSP00000355896.4:p.Asn168MetfsTer6
ENST00000366930.8:c.419del	ENSP00000355897.4:p.Asn140MetfsTer6
ENST00000488793.1:n.83del
NM_001135599.2:c.503del	NP_001129071.1:p.Asn168MetfsTer6
NM_003238.3:c.419del	NP_003229.1:p.Asn140MetfsTer6
NM_001135599.3:c.503del	NP_001129071.1:p.Asn168MetfsTer6
NM_003238.4:c.419del	NP_003229.1:p.Asn140MetfsTer6
NR_138148.1:n.1837del
NR_138149.1:n.1921del
NM_003238.5:c.419del	NP_003229.1:p.Asn140MetfsTer6
NM_003238.6:c.419del MANE Select	NP_003229.1:p.Asn140MetfsTer6
NM_001135599.4:c.503del	NP_001129071.1:p.Asn168MetfsTer6
NR_138148.2:n.1785del
NR_138149.2:n.1869del

Search 100 bp 5'

Search 100 bp 3'