Canonical Allele Identifier: CA344725114

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 3176650
• ClinVar RCV Id: RCV004474510
• dbSNP Id: rs752870701
• gnomAD v3: 1-218346723-G-A
• gnomAD v4: 1-218346723-G-A
• MyVariant Identifiers: chr1:g.218520065G>A (hg19) ; chr1:g.218346723G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346723G>A , CM000663.2:g.218346723G>A	GRCh38
NC_000001.10:g.218520065G>A , CM000663.1:g.218520065G>A	GRCh37
NC_000001.9:g.216586688G>A	NCBI36
NG_027721.1:g.6390G>A
NG_027721.2:g.6390G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.22G>A MANE Select	ENSP00000355897.4:p.Ala8Thr
ENST00000366929.4:c.22G>A	ENSP00000355896.4:p.Ala8Thr
ENST00000366930.8:c.22G>A	ENSP00000355897.4:p.Ala8Thr
NM_001135599.2:c.22G>A	NP_001129071.1:p.Ala8Thr
NM_003238.3:c.22G>A	NP_003229.1:p.Ala8Thr
NM_001135599.3:c.22G>A	NP_001129071.1:p.Ala8Thr
NM_003238.4:c.22G>A	NP_003229.1:p.Ala8Thr
NR_138148.1:n.1440G>A
NR_138149.1:n.1440G>A
NM_003238.5:c.22G>A	NP_003229.1:p.Ala8Thr
NM_003238.6:c.22G>A MANE Select	NP_003229.1:p.Ala8Thr
NM_001135599.4:c.22G>A	NP_001129071.1:p.Ala8Thr
NR_138148.2:n.1388G>A
NR_138149.2:n.1388G>A