Canonical Allele Identifier: CA344725727

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 2767503
• ClinVar RCV Id: RCV003532468
• MyVariant Identifiers: chr1:g.218520342C>A (hg19) ; chr1:g.218347000C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218347000C>A , CM000663.2:g.218347000C>A	GRCh38
NC_000001.10:g.218520342C>A , CM000663.1:g.218520342C>A	GRCh37
NC_000001.9:g.216586965C>A	NCBI36
NG_027721.1:g.6667C>A
NG_027721.2:g.6667C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366930.9:c.299C>A MANE Select	ENSP00000355897.4:p.Ala100Asp
ENST00000366929.4:c.299C>A	ENSP00000355896.4:p.Ala100Asp
ENST00000366930.8:c.299C>A	ENSP00000355897.4:p.Ala100Asp
NM_001135599.2:c.299C>A	NP_001129071.1:p.Ala100Asp
NM_003238.3:c.299C>A	NP_003229.1:p.Ala100Asp
NM_001135599.3:c.299C>A	NP_001129071.1:p.Ala100Asp
NM_003238.4:c.299C>A	NP_003229.1:p.Ala100Asp
NR_138148.1:n.1717C>A
NR_138149.1:n.1717C>A
NM_003238.5:c.299C>A	NP_003229.1:p.Ala100Asp
NM_003238.6:c.299C>A MANE Select	NP_003229.1:p.Ala100Asp
NM_001135599.4:c.299C>A	NP_001129071.1:p.Ala100Asp
NR_138148.2:n.1665C>A
NR_138149.2:n.1665C>A