Canonical Allele Identifier: CA351808341

Gene: TGFBR2

Linked Data

• dbSNP Id: rs775897166
• gnomAD v2: 3-30713676-A-T
• gnomAD v4: 3-30672184-A-T
• MyVariant Identifiers: chr3:g.30713676A>T (hg19) ; chr3:g.30672184A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672184A>T , CM000665.2:g.30672184A>T	GRCh38
NC_000003.11:g.30713676A>T , CM000665.1:g.30713676A>T	GRCh37
NC_000003.10:g.30688680A>T	NCBI36
NG_007490.1:g.70683A>T , LRG_779:g.70683A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1001A>T MANE Select	ENSP00000295754.5:p.Gln334Leu
ENST00000672866.1:n.2597A>T
ENST00000295754.9:c.1001A>T	ENSP00000295754.5:p.Gln334Leu
ENST00000359013.4:c.1076A>T	ENSP00000351905.4:p.Gln359Leu
NM_001024847.2:c.1076A>T , LRG_779t1:c.1076A>T	NP_001020018.1:p.Gln359Leu
NM_003242.5:c.1001A>T	NP_003233.4:p.Gln334Leu
XM_011534043.1:c.1028A>T	XP_011532345.1:p.Gln343Leu
XM_011534044.1:c.953A>T	XP_011532346.1:p.Gln318Leu
XM_011534045.1:c.896A>T	XP_011532347.1:p.Gln299Leu
XM_011534043.2:c.1028A>T	XP_011532345.1:p.Gln343Leu
XM_011534045.3:c.896A>T	XP_011532347.1:p.Gln299Leu
XM_017007106.1:c.896A>T	XP_016862595.1:p.Gln299Leu
NM_003242.6:c.1001A>T MANE Select	NP_003233.4:p.Gln334Leu