Canonical Allele Identifier: CA529220414

Gene: TGFB2

Linked Data

• dbSNP Id: rs1309161752
• gnomAD v2: 1-218614768-A-G
• gnomAD v4: 1-218441426-A-G
• MyVariant Identifiers: chr1:g.218614768A>G (hg19) ; chr1:g.218441426A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218441426A>G , CM000663.2:g.218441426A>G	GRCh38
NC_000001.10:g.218614768A>G , CM000663.1:g.218614768A>G	GRCh37
NC_000001.9:g.216681391A>G	NCBI36
NG_027721.1:g.101093A>G
NG_027721.2:g.101093A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.*64A>G MANE Select	ENSP00000355897.4:n.*64A>G
ENST00000366929.4:c.*64A>G	ENSP00000355896.4:n.*64A>G
ENST00000366930.8:c.*64A>G	ENSP00000355897.4:n.*64A>G
ENST00000479322.1:n.793A>G
NM_001135599.2:c.*64A>G	NP_001129071.1:n.*64A>G
NM_003238.3:c.*64A>G	NP_003229.1:n.*64A>G
NM_001135599.3:c.*64A>G	NP_001129071.1:n.*64A>G
NM_003238.4:c.*64A>G	NP_003229.1:n.*64A>G
NR_138148.1:n.2612A>G
NR_138149.1:n.2696A>G
NM_003238.5:c.*64A>G	NP_003229.1:n.*64A>G
NM_003238.6:c.*64A>G MANE Select	NP_003229.1:n.*64A>G
NM_001135599.4:c.*64A>G	NP_001129071.1:n.*64A>G
NR_138148.2:n.2560A>G
NR_138149.2:n.2644A>G