Canonical Allele Identifier: CA344725312

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 1976865
• ClinVar RCV Id: RCV002731634
• dbSNP Id: rs1656697535
• gnomAD v4: 1-218346813-G-C
• MyVariant Identifiers: chr1:g.218520155G>C (hg19) ; chr1:g.218346813G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346813G>C , CM000663.2:g.218346813G>C	GRCh38
NC_000001.10:g.218520155G>C , CM000663.1:g.218520155G>C	GRCh37
NC_000001.9:g.216586778G>C	NCBI36
NG_027721.1:g.6480G>C
NG_027721.2:g.6480G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.112G>C MANE Select	ENSP00000355897.4:p.Glu38Gln
ENST00000366929.4:c.112G>C	ENSP00000355896.4:p.Glu38Gln
ENST00000366930.8:c.112G>C	ENSP00000355897.4:p.Glu38Gln
NM_001135599.2:c.112G>C	NP_001129071.1:p.Glu38Gln
NM_003238.3:c.112G>C	NP_003229.1:p.Glu38Gln
NM_001135599.3:c.112G>C	NP_001129071.1:p.Glu38Gln
NM_003238.4:c.112G>C	NP_003229.1:p.Glu38Gln
NR_138148.1:n.1530G>C
NR_138149.1:n.1530G>C
NM_003238.5:c.112G>C	NP_003229.1:p.Glu38Gln
NM_003238.6:c.112G>C MANE Select	NP_003229.1:p.Glu38Gln
NM_001135599.4:c.112G>C	NP_001129071.1:p.Glu38Gln
NR_138148.2:n.1478G>C
NR_138149.2:n.1478G>C