Canonical Allele Identifier: CA2594900622

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1350860665
• gnomAD v3: 3-30689451-G-C
• gnomAD v4: 3-30689451-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30689451G>C , CM000665.2:g.30689451G>C	GRCh38
NC_000003.11:g.30730943G>C , CM000665.1:g.30730943G>C	GRCh37
NC_000003.10:g.30705947G>C	NCBI36
NG_007490.1:g.87950G>C , LRG_779:g.87950G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1524+940G>C MANE Select	ENSP00000295754.5:n.1524+940G>C
ENST00000672050.1:n.408+940G>C
ENST00000672866.1:n.3120+940G>C
ENST00000673203.1:n.402+940G>C
ENST00000295754.9:c.1524+940G>C	ENSP00000295754.5:n.1524+940G>C
ENST00000359013.4:c.1599+940G>C	ENSP00000351905.4:n.1599+940G>C
NM_001024847.2:c.1599+940G>C , LRG_779t1:c.1599+940G>C	NP_001020018.1:n.1599+940G>C
NM_003242.5:c.1524+940G>C	NP_003233.4:n.1524+940G>C
XM_011534043.1:c.1551+940G>C	XP_011532345.1:n.1551+940G>C
XM_011534044.1:c.1476+940G>C	XP_011532346.1:n.1476+940G>C
XM_011534045.1:c.1419+940G>C	XP_011532347.1:n.1419+940G>C
XM_011534043.2:c.1551+940G>C	XP_011532345.1:n.1551+940G>C
XM_011534045.3:c.1419+940G>C	XP_011532347.1:n.1419+940G>C
XM_017007106.1:c.1419+940G>C	XP_016862595.1:n.1419+940G>C
NM_003242.6:c.1524+940G>C MANE Select	NP_003233.4:n.1524+940G>C