Canonical Allele Identifier: CA050306

Gene: TGFBR2

Linked Data

• dbSNP Id: rs555575214
• ExAC: 3:30664667 G / A
• gnomAD v2: 3-30664667-G-A
• gnomAD v3: 3-30623175-G-A
• gnomAD v4: 3-30623175-G-A
• MyVariant Identifiers: chr3:g.30664667G>A (hg19) ; chr3:g.30623175G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30623175G>A , CM000665.2:g.30623175G>A	GRCh38
NC_000003.11:g.30664667G>A , CM000665.1:g.30664667G>A	GRCh37
NC_000003.10:g.30639671G>A	NCBI36
NG_007490.1:g.21674G>A , LRG_779:g.21674G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.94+16198G>A MANE Select	ENSP00000295754.5:n.94+16198G>A
ENST00000673250.1:n.144-24G>A
ENST00000295754.9:c.94+16198G>A	ENSP00000295754.5:n.94+16198G>A
ENST00000359013.4:c.95-24G>A	ENSP00000351905.4:n.95-24G>A
NM_001024847.2:c.95-24G>A , LRG_779t1:c.95-24G>A	NP_001020018.1:n.95-24G>A
NM_003242.5:c.94+16198G>A	NP_003233.4:n.94+16198G>A
XM_011534043.1:c.47-24G>A	XP_011532345.1:n.47-24G>A
XM_011534044.1:c.46+8469G>A	XP_011532346.1:n.46+8469G>A
XM_011534045.1:c.-12+16582G>A	XP_011532347.1:n.-12+16582G>A
XM_011534043.2:c.47-24G>A	XP_011532345.1:n.47-24G>A
XM_011534045.3:c.-12+16582G>A	XP_011532347.1:n.-12+16582G>A
NM_003242.6:c.94+16198G>A MANE Select	NP_003233.4:n.94+16198G>A