Canonical Allele Identifier: CA050330

Gene: TGFBR2

Linked Data

• dbSNP Id: rs774677345
• ExAC: 3:30664670 T / C
• MyVariant Identifiers: chr3:g.30664670T>C (hg19) ; chr3:g.30623178T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30623178T>C , CM000665.2:g.30623178T>C	GRCh38
NC_000003.11:g.30664670T>C , CM000665.1:g.30664670T>C	GRCh37
NC_000003.10:g.30639674T>C	NCBI36
NG_007490.1:g.21677T>C , LRG_779:g.21677T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.94+16201T>C MANE Select	ENSP00000295754.5:n.94+16201T>C
ENST00000673250.1:n.144-21T>C
ENST00000295754.9:c.94+16201T>C	ENSP00000295754.5:n.94+16201T>C
ENST00000359013.4:c.95-21T>C	ENSP00000351905.4:n.95-21T>C
NM_001024847.2:c.95-21T>C , LRG_779t1:c.95-21T>C	NP_001020018.1:n.95-21T>C
NM_003242.5:c.94+16201T>C	NP_003233.4:n.94+16201T>C
XM_011534043.1:c.47-21T>C	XP_011532345.1:n.47-21T>C
XM_011534044.1:c.46+8472T>C	XP_011532346.1:n.46+8472T>C
XM_011534045.1:c.-12+16585T>C	XP_011532347.1:n.-12+16585T>C
XM_011534043.2:c.47-21T>C	XP_011532345.1:n.47-21T>C
XM_011534045.3:c.-12+16585T>C	XP_011532347.1:n.-12+16585T>C
NM_003242.6:c.94+16201T>C MANE Select	NP_003233.4:n.94+16201T>C