Canonical Allele Identifier: CA351808345

Gene: TGFBR2

Linked Data

• gnomAD v4: 3-30672186-G-C
• MyVariant Identifiers: chr3:g.30713678G>C (hg19) ; chr3:g.30672186G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672186G>C , CM000665.2:g.30672186G>C	GRCh38
NC_000003.11:g.30713678G>C , CM000665.1:g.30713678G>C	GRCh37
NC_000003.10:g.30688682G>C	NCBI36
NG_007490.1:g.70685G>C , LRG_779:g.70685G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1003G>C MANE Select	ENSP00000295754.5:p.Glu335Gln
ENST00000672866.1:n.2599G>C
ENST00000295754.9:c.1003G>C	ENSP00000295754.5:p.Glu335Gln
ENST00000359013.4:c.1078G>C	ENSP00000351905.4:p.Glu360Gln
NM_001024847.2:c.1078G>C , LRG_779t1:c.1078G>C	NP_001020018.1:p.Glu360Gln
NM_003242.5:c.1003G>C	NP_003233.4:p.Glu335Gln
XM_011534043.1:c.1030G>C	XP_011532345.1:p.Glu344Gln
XM_011534044.1:c.955G>C	XP_011532346.1:p.Glu319Gln
XM_011534045.1:c.898G>C	XP_011532347.1:p.Glu300Gln
XM_011534043.2:c.1030G>C	XP_011532345.1:p.Glu344Gln
XM_011534045.3:c.898G>C	XP_011532347.1:p.Glu300Gln
XM_017007106.1:c.898G>C	XP_016862595.1:p.Glu300Gln
NM_003242.6:c.1003G>C MANE Select	NP_003233.4:p.Glu335Gln