Canonical Allele Identifier: CA046017

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1556985
• ClinVar RCV Id: RCV002194623 ; RCV003738133
• dbSNP Id: rs45515293
• ExAC: 3:30713945 T / C
• gnomAD v2: 3-30713945-T-C
• gnomAD v3: 3-30672453-T-C
• gnomAD v4: 3-30672453-T-C
• MyVariant Identifiers: chr3:g.30713945T>C (hg19) ; chr3:g.30672453T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672453T>C , CM000665.2:g.30672453T>C	GRCh38
NC_000003.11:g.30713945T>C , CM000665.1:g.30713945T>C	GRCh37
NC_000003.10:g.30688949T>C	NCBI36
NG_007490.1:g.70952T>C , LRG_779:g.70952T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1254+16T>C MANE Select	ENSP00000295754.5:n.1254+16T>C
ENST00000672866.1:n.2850+16T>C
ENST00000295754.9:c.1254+16T>C	ENSP00000295754.5:n.1254+16T>C
ENST00000359013.4:c.1329+16T>C	ENSP00000351905.4:n.1329+16T>C
NM_001024847.2:c.1329+16T>C , LRG_779t1:c.1329+16T>C	NP_001020018.1:n.1329+16T>C
NM_003242.5:c.1254+16T>C	NP_003233.4:n.1254+16T>C
XM_011534043.1:c.1281+16T>C	XP_011532345.1:n.1281+16T>C
XM_011534044.1:c.1206+16T>C	XP_011532346.1:n.1206+16T>C
XM_011534045.1:c.1149+16T>C	XP_011532347.1:n.1149+16T>C
XM_011534043.2:c.1281+16T>C	XP_011532345.1:n.1281+16T>C
XM_011534045.3:c.1149+16T>C	XP_011532347.1:n.1149+16T>C
XM_017007106.1:c.1149+16T>C	XP_016862595.1:n.1149+16T>C
NM_003242.6:c.1254+16T>C MANE Select	NP_003233.4:n.1254+16T>C