Canonical Allele Identifier: CA344725215

Gene: TGFB2

Linked Data

• dbSNP Id: rs1656695666
• gnomAD v3: 1-218346773-C-G
• gnomAD v4: 1-218346773-C-G
• MyVariant Identifiers: chr1:g.218520115C>G (hg19) ; chr1:g.218346773C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346773C>G , CM000663.2:g.218346773C>G	GRCh38
NC_000001.10:g.218520115C>G , CM000663.1:g.218520115C>G	GRCh37
NC_000001.9:g.216586738C>G	NCBI36
NG_027721.1:g.6440C>G
NG_027721.2:g.6440C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.72C>G MANE Select	ENSP00000355897.4:p.Cys24Trp
ENST00000366929.4:c.72C>G	ENSP00000355896.4:p.Cys24Trp
ENST00000366930.8:c.72C>G	ENSP00000355897.4:p.Cys24Trp
NM_001135599.2:c.72C>G	NP_001129071.1:p.Cys24Trp
NM_003238.3:c.72C>G	NP_003229.1:p.Cys24Trp
NM_001135599.3:c.72C>G	NP_001129071.1:p.Cys24Trp
NM_003238.4:c.72C>G	NP_003229.1:p.Cys24Trp
NR_138148.1:n.1490C>G
NR_138149.1:n.1490C>G
NM_003238.5:c.72C>G	NP_003229.1:p.Cys24Trp
NM_003238.6:c.72C>G MANE Select	NP_003229.1:p.Cys24Trp
NM_001135599.4:c.72C>G	NP_001129071.1:p.Cys24Trp
NR_138148.2:n.1438C>G
NR_138149.2:n.1438C>G