Canonical Allele Identifier: CA1398367

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 295487
• ClinVar RCV Id: RCV000303403
• dbSNP Id: rs781126315
• ExAC: 1:218520097 G / T
• gnomAD v2: 1-218520097-G-T
• gnomAD v4: 1-218346755-G-T
• MyVariant Identifiers: chr1:g.218520097G>T (hg19) ; chr1:g.218346755G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346755G>T , CM000663.2:g.218346755G>T	GRCh38
NC_000001.10:g.218520097G>T , CM000663.1:g.218520097G>T	GRCh37
NC_000001.9:g.216586720G>T	NCBI36
NG_027721.1:g.6422G>T
NG_027721.2:g.6422G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366930.9:c.54G>T MANE Select	ENSP00000355897.4:p.Ala18=
ENST00000366929.4:c.54G>T	ENSP00000355896.4:p.Ala18=
ENST00000366930.8:c.54G>T	ENSP00000355897.4:p.Ala18=
NM_001135599.2:c.54G>T	NP_001129071.1:p.Ala18=
NM_003238.3:c.54G>T	NP_003229.1:p.Ala18=
NM_001135599.3:c.54G>T	NP_001129071.1:p.Ala18=
NM_003238.4:c.54G>T	NP_003229.1:p.Ala18=
NR_138148.1:n.1472G>T
NR_138149.1:n.1472G>T
NM_003238.5:c.54G>T	NP_003229.1:p.Ala18=
NM_003238.6:c.54G>T MANE Select	NP_003229.1:p.Ala18=
NM_001135599.4:c.54G>T	NP_001129071.1:p.Ala18=
NR_138148.2:n.1420G>T
NR_138149.2:n.1420G>T