Canonical Allele Identifier: CA10609965

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 295494
• ClinVar RCV Id: RCV000380797 ; RCV000994259
• dbSNP Id: rs886045980
• gnomAD v2: 1-218614640-T-C
• gnomAD v3: 1-218441298-T-C
• gnomAD v4: 1-218441298-T-C
• MyVariant Identifiers: chr1:g.218614640T>C (hg19) ; chr1:g.218441298T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218441298T>C , CM000663.2:g.218441298T>C	GRCh38
NC_000001.10:g.218614640T>C , CM000663.1:g.218614640T>C	GRCh37
NC_000001.9:g.216681263T>C	NCBI36
NG_027721.1:g.100965T>C
NG_027721.2:g.100965T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.1181T>C MANE Select	ENSP00000355897.4:p.Ile394Thr
ENST00000366929.4:c.1265T>C	ENSP00000355896.4:p.Ile422Thr
ENST00000366930.8:c.1181T>C	ENSP00000355897.4:p.Ile394Thr
ENST00000479322.1:n.665T>C
NM_001135599.2:c.1265T>C	NP_001129071.1:p.Ile422Thr
NM_003238.3:c.1181T>C	NP_003229.1:p.Ile394Thr
NM_001135599.3:c.1265T>C	NP_001129071.1:p.Ile422Thr
NM_003238.4:c.1181T>C	NP_003229.1:p.Ile394Thr
NR_138148.1:n.2484T>C
NR_138149.1:n.2568T>C
NM_003238.5:c.1181T>C	NP_003229.1:p.Ile394Thr
NM_003238.6:c.1181T>C MANE Select	NP_003229.1:p.Ile394Thr
NM_001135599.4:c.1265T>C	NP_001129071.1:p.Ile422Thr
NR_138148.2:n.2432T>C
NR_138149.2:n.2516T>C