Canonical Allele Identifier: CA10618058

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 344712
• ClinVar RCV Id: RCV000310536 ; RCV000339756 ; RCV000403210 ; RCV003437094
• dbSNP Id: rs566913021
• gnomAD v2: 3-30735157-G-A
• gnomAD v3: 3-30693665-G-A
• gnomAD v4: 3-30693665-G-A
• MyVariant Identifiers: chr3:g.30735157G>A (hg19) ; chr3:g.30693665G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30693665G>A , CM000665.2:g.30693665G>A	GRCh38
NC_000003.11:g.30735157G>A , CM000665.1:g.30735157G>A	GRCh37
NC_000003.10:g.30710161G>A	NCBI36
NG_007490.1:g.92164G>A , LRG_779:g.92164G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.*2066G>A MANE Select	ENSP00000295754.5:n.*2066G>A
ENST00000672866.1:n.5366G>A
ENST00000673203.1:n.2648G>A
ENST00000295754.9:c.*2066G>A	ENSP00000295754.5:n.*2066G>A
ENST00000359013.4:c.*2066G>A	ENSP00000351905.4:n.*2066G>A
NM_001024847.2:c.*2066G>A , LRG_779t1:c.*2066G>A	NP_001020018.1:n.*2066G>A
NM_003242.5:c.*2066G>A	NP_003233.4:n.*2066G>A
XM_011534043.1:c.*2066G>A	XP_011532345.1:n.*2066G>A
XM_011534044.1:c.*2066G>A	XP_011532346.1:n.*2066G>A
XM_011534045.1:c.*2066G>A	XP_011532347.1:n.*2066G>A
XM_011534043.2:c.*2066G>A	XP_011532345.1:n.*2066G>A
XM_011534045.3:c.*2066G>A	XP_011532347.1:n.*2066G>A
XM_017007106.1:c.*2066G>A	XP_016862595.1:n.*2066G>A
NM_003242.6:c.*2066G>A MANE Select	NP_003233.4:n.*2066G>A