Canonical Allele Identifier: CA351808353

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 2836451
• ClinVar RCV Id: RCV003644037
• MyVariant Identifiers: chr3:g.30713682A>C (hg19) ; chr3:g.30672190A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672190A>C , CM000665.2:g.30672190A>C	GRCh38
NC_000003.11:g.30713682A>C , CM000665.1:g.30713682A>C	GRCh37
NC_000003.10:g.30688686A>C	NCBI36
NG_007490.1:g.70689A>C , LRG_779:g.70689A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1007A>C MANE Select	ENSP00000295754.5:p.Tyr336Ser
ENST00000672866.1:n.2603A>C
ENST00000295754.9:c.1007A>C	ENSP00000295754.5:p.Tyr336Ser
ENST00000359013.4:c.1082A>C	ENSP00000351905.4:p.Tyr361Ser
NM_001024847.2:c.1082A>C , LRG_779t1:c.1082A>C	NP_001020018.1:p.Tyr361Ser
NM_003242.5:c.1007A>C	NP_003233.4:p.Tyr336Ser
XM_011534043.1:c.1034A>C	XP_011532345.1:p.Tyr345Ser
XM_011534044.1:c.959A>C	XP_011532346.1:p.Tyr320Ser
XM_011534045.1:c.902A>C	XP_011532347.1:p.Tyr301Ser
XM_011534043.2:c.1034A>C	XP_011532345.1:p.Tyr345Ser
XM_011534045.3:c.902A>C	XP_011532347.1:p.Tyr301Ser
XM_017007106.1:c.902A>C	XP_016862595.1:p.Tyr301Ser
NM_003242.6:c.1007A>C MANE Select	NP_003233.4:p.Tyr336Ser