Canonical Allele Identifier: CA658795599

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 507761
• ClinVar RCV Id: RCV000615162
• dbSNP Id: rs200186989
• gnomAD v3: 1-218346649-C-CT
• gnomAD v4: 1-218346649-C-CT
• MyVariant Identifiers: chr1:g.218519999dup (hg19) ; chr1:g.218346657dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346657dup , CM000663.2:g.218346657dup	GRCh38
NC_000001.10:g.218519999dup , CM000663.1:g.218519999dup	GRCh37
NC_000001.9:g.216586622dup	NCBI36
NG_027721.1:g.6324dup
NG_027721.2:g.6324dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000366930.9:c.-45dup MANE Select	ENSP00000355897.4:n.-45dup
ENST00000366929.4:c.-45dup	ENSP00000355896.4:n.-45dup
ENST00000366930.8:c.-45dup	ENSP00000355897.4:n.-45dup
NM_001135599.2:c.-45dup	NP_001129071.1:n.-45dup
NM_003238.3:c.-45dup	NP_003229.1:n.-45dup
NM_001135599.3:c.-45dup	NP_001129071.1:n.-45dup
NM_003238.4:c.-45dup	NP_003229.1:n.-45dup
NR_138148.1:n.1374dup
NR_138149.1:n.1374dup
NM_003238.5:c.-45dup	NP_003229.1:n.-45dup
NM_003238.6:c.-45dup MANE Select	NP_003229.1:n.-45dup
NM_001135599.4:c.-45dup	NP_001129071.1:n.-45dup
NR_138148.2:n.1322dup
NR_138149.2:n.1322dup