Canonical Allele Identifier: CA351809667

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 2437070
• ClinVar RCV Id: RCV003140990
• MyVariant Identifiers: chr3:g.30733000T>C (hg19) ; chr3:g.30691508T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691508T>C , CM000665.2:g.30691508T>C	GRCh38
NC_000003.11:g.30733000T>C , CM000665.1:g.30733000T>C	GRCh37
NC_000003.10:g.30708004T>C	NCBI36
NG_007490.1:g.90007T>C , LRG_779:g.90007T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1613T>C MANE Select	ENSP00000295754.5:p.Phe538Ser
ENST00000672050.1:n.497T>C
ENST00000672866.1:n.3209T>C
ENST00000673203.1:n.491T>C
ENST00000295754.9:c.1613T>C	ENSP00000295754.5:p.Phe538Ser
ENST00000359013.4:c.1688T>C	ENSP00000351905.4:p.Phe563Ser
NM_001024847.2:c.1688T>C , LRG_779t1:c.1688T>C	NP_001020018.1:p.Phe563Ser
NM_003242.5:c.1613T>C	NP_003233.4:p.Phe538Ser
XM_011534043.1:c.1640T>C	XP_011532345.1:p.Phe547Ser
XM_011534044.1:c.1565T>C	XP_011532346.1:p.Phe522Ser
XM_011534045.1:c.1508T>C	XP_011532347.1:p.Phe503Ser
XM_011534043.2:c.1640T>C	XP_011532345.1:p.Phe547Ser
XM_011534045.3:c.1508T>C	XP_011532347.1:p.Phe503Ser
XM_017007106.1:c.1508T>C	XP_016862595.1:p.Phe503Ser
NM_003242.6:c.1613T>C MANE Select	NP_003233.4:p.Phe538Ser