Canonical Allele Identifier: CA906116424

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1449755076
• MyVariant Identifiers: chr3:g.30697947A>C (hg19) ; chr3:g.30656455A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30656455A>C , CM000665.2:g.30656455A>C	GRCh38
NC_000003.11:g.30697947A>C , CM000665.1:g.30697947A>C	GRCh37
NC_000003.10:g.30672951A>C	NCBI36
NG_007490.1:g.54954A>C , LRG_779:g.54954A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.454+5995A>C MANE Select	ENSP00000295754.5:n.454+5995A>C
ENST00000672866.1:n.2050+5995A>C
ENST00000295754.9:c.454+5995A>C	ENSP00000295754.5:n.454+5995A>C
ENST00000359013.4:c.529+5995A>C	ENSP00000351905.4:n.529+5995A>C
NM_001024847.2:c.529+5995A>C , LRG_779t1:c.529+5995A>C	NP_001020018.1:n.529+5995A>C
NM_003242.5:c.454+5995A>C	NP_003233.4:n.454+5995A>C
XM_011534043.1:c.481+5995A>C	XP_011532345.1:n.481+5995A>C
XM_011534044.1:c.406+5995A>C	XP_011532346.1:n.406+5995A>C
XM_011534045.1:c.349+5995A>C	XP_011532347.1:n.349+5995A>C
XR_940692.1:n.2974A>C
XM_011534043.2:c.481+5995A>C	XP_011532345.1:n.481+5995A>C
XM_011534045.3:c.349+5995A>C	XP_011532347.1:n.349+5995A>C
XM_017007106.1:c.349+5995A>C	XP_016862595.1:n.349+5995A>C
XR_001740630.1:n.2476A>C
XR_001740631.1:n.647-1252A>C
NM_003242.6:c.454+5995A>C MANE Select	NP_003233.4:n.454+5995A>C