Canonical Allele Identifier: CA1398362

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 3223143
• ClinVar RCV Id: RCV004508498
• dbSNP Id: rs752870701
• ExAC: 1:218520065 G / T
• gnomAD v3: 1-218346723-G-T
• gnomAD v4: 1-218346723-G-T
• MyVariant Identifiers: chr1:g.218520065G>T (hg19) ; chr1:g.218346723G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.22G>T MANE Select	ENSP00000355897.4:p.Ala8Ser
ENST00000366929.4:c.22G>T	ENSP00000355896.4:p.Ala8Ser
ENST00000366930.8:c.22G>T	ENSP00000355897.4:p.Ala8Ser
NM_001135599.2:c.22G>T	NP_001129071.1:p.Ala8Ser
NM_003238.3:c.22G>T	NP_003229.1:p.Ala8Ser
NM_001135599.3:c.22G>T	NP_001129071.1:p.Ala8Ser
NM_003238.4:c.22G>T	NP_003229.1:p.Ala8Ser
NR_138148.1:n.1440G>T
NR_138149.1:n.1440G>T
NM_003238.5:c.22G>T	NP_003229.1:p.Ala8Ser
NM_003238.6:c.22G>T MANE Select	NP_003229.1:p.Ala8Ser
NM_001135599.4:c.22G>T	NP_001129071.1:p.Ala8Ser
NR_138148.2:n.1388G>T
NR_138149.2:n.1388G>T