Canonical Allele Identifier: CA1398654

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 2452022
• ClinVar RCV Id: RCV003172116
• dbSNP Id: rs765295855
• ExAC: 1:218610713 C / A
• gnomAD v2: 1-218610713-C-A
• gnomAD v3: 1-218437371-C-A
• gnomAD v4: 1-218437371-C-A
• MyVariant Identifiers: chr1:g.218610713C>A (hg19) ; chr1:g.218437371C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218437371C>A , CM000663.2:g.218437371C>A	GRCh38
NC_000001.10:g.218610713C>A , CM000663.1:g.218610713C>A	GRCh37
NC_000001.9:g.216677336C>A	NCBI36
NG_027721.1:g.97038C>A
NG_027721.2:g.97038C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.961C>A MANE Select	ENSP00000355897.4:p.Pro321Thr
ENST00000366929.4:c.1045C>A	ENSP00000355896.4:p.Pro349Thr
ENST00000366930.8:c.961C>A	ENSP00000355897.4:p.Pro321Thr
ENST00000479322.1:n.445C>A
NM_001135599.2:c.1045C>A	NP_001129071.1:p.Pro349Thr
NM_003238.3:c.961C>A	NP_003229.1:p.Pro321Thr
NM_001135599.3:c.1045C>A	NP_001129071.1:p.Pro349Thr
NM_003238.4:c.961C>A	NP_003229.1:p.Pro321Thr
NR_138148.1:n.2264C>A
NR_138149.1:n.2348C>A
NM_003238.5:c.961C>A	NP_003229.1:p.Pro321Thr
NM_003238.6:c.961C>A MANE Select	NP_003229.1:p.Pro321Thr
NM_001135599.4:c.1045C>A	NP_001129071.1:p.Pro349Thr
NR_138148.2:n.2212C>A
NR_138149.2:n.2296C>A