Canonical Allele Identifier: CA045977

Gene: TGFBR2

Linked Data

• dbSNP Id: rs773533577
• ExAC: 3:30713926 G / C
• gnomAD v2: 3-30713926-G-C
• gnomAD v4: 3-30672434-G-C
• MyVariant Identifiers: chr3:g.30713926G>C (hg19) ; chr3:g.30672434G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672434G>C , CM000665.2:g.30672434G>C	GRCh38
NC_000003.11:g.30713926G>C , CM000665.1:g.30713926G>C	GRCh37
NC_000003.10:g.30688930G>C	NCBI36
NG_007490.1:g.70933G>C , LRG_779:g.70933G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1251G>C MANE Select	ENSP00000295754.5:p.Gly417=
ENST00000672866.1:n.2847G>C
ENST00000295754.9:c.1251G>C	ENSP00000295754.5:p.Gly417=
ENST00000359013.4:c.1326G>C	ENSP00000351905.4:p.Gly442=
NM_001024847.2:c.1326G>C , LRG_779t1:c.1326G>C	NP_001020018.1:p.Gly442=
NM_003242.5:c.1251G>C	NP_003233.4:p.Gly417=
XM_011534043.1:c.1278G>C	XP_011532345.1:p.Gly426=
XM_011534044.1:c.1203G>C	XP_011532346.1:p.Gly401=
XM_011534045.1:c.1146G>C	XP_011532347.1:p.Gly382=
XM_011534043.2:c.1278G>C	XP_011532345.1:p.Gly426=
XM_011534045.3:c.1146G>C	XP_011532347.1:p.Gly382=
XM_017007106.1:c.1146G>C	XP_016862595.1:p.Gly382=
NM_003242.6:c.1251G>C MANE Select	NP_003233.4:p.Gly417=