Canonical Allele Identifier: CA433058548

Gene: TGFBR2

Linked Data

• gnomAD v4: 3-30671906-G-T
• MyVariant Identifiers: chr3:g.30713398G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671906G>T , CM000665.2:g.30671906G>T	GRCh38
NC_000003.11:g.30713398G>T , CM000665.1:g.30713398G>T	GRCh37
NC_000003.10:g.30688402G>T	NCBI36
NG_007490.1:g.70405G>T , LRG_779:g.70405G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.723G>T MANE Select	ENSP00000295754.5:p.Leu241=
ENST00000672866.1:n.2319G>T
ENST00000295754.9:c.723G>T	ENSP00000295754.5:p.Leu241=
ENST00000359013.4:c.798G>T	ENSP00000351905.4:p.Leu266=
NM_001024847.2:c.798G>T , LRG_779t1:c.798G>T	NP_001020018.1:p.Leu266=
NM_003242.5:c.723G>T	NP_003233.4:p.Leu241=
XM_011534043.1:c.750G>T	XP_011532345.1:p.Leu250=
XM_011534044.1:c.675G>T	XP_011532346.1:p.Leu225=
XM_011534045.1:c.618G>T	XP_011532347.1:p.Leu206=
XM_011534043.2:c.750G>T	XP_011532345.1:p.Leu250=
XM_011534045.3:c.618G>T	XP_011532347.1:p.Leu206=
XM_017007106.1:c.618G>T	XP_016862595.1:p.Leu206=
NM_003242.6:c.723G>T MANE Select	NP_003233.4:p.Leu241=