Canonical Allele Identifier: CA529466318

Gene: TGFB2

Linked Data

• dbSNP Id: rs1558219802
• gnomAD v2: 1-218519996-T-C
• gnomAD v4: 1-218346654-T-C
• MyVariant Identifiers: chr1:g.218519996_218520000delinsCTTTA (hg19) ; chr1:g.218346654_218346658delinsCTTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346654T>C , CM000663.2:g.218346654T>C	GRCh38
NC_000001.10:g.218519996T>C , CM000663.1:g.218519996T>C	GRCh37
NC_000001.9:g.216586619T>C	NCBI36
NG_027721.1:g.6321T>C
NG_027721.2:g.6321T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.-48T>C MANE Select	ENSP00000355897.4:n.-48T>C
ENST00000366929.4:c.-48T>C	ENSP00000355896.4:n.-48T>C
ENST00000366930.8:c.-48T>C	ENSP00000355897.4:n.-48T>C
NM_001135599.2:c.-48T>C	NP_001129071.1:n.-48T>C
NM_003238.3:c.-48T>C	NP_003229.1:n.-48T>C
NM_001135599.3:c.-48T>C	NP_001129071.1:n.-48T>C
NM_003238.4:c.-48T>C	NP_003229.1:n.-48T>C
NR_138148.1:n.1371T>C
NR_138149.1:n.1371T>C
NM_003238.5:c.-48T>C	NP_003229.1:n.-48T>C
NM_003238.6:c.-48T>C MANE Select	NP_003229.1:n.-48T>C
NM_001135599.4:c.-48T>C	NP_001129071.1:n.-48T>C
NR_138148.2:n.1319T>C
NR_138149.2:n.1319T>C