Canonical Allele Identifier: CA351808294

Gene: TGFBR2

Linked Data

• gnomAD v4: 3-30672162-T-C
• MyVariant Identifiers: chr3:g.30713654T>C (hg19) ; chr3:g.30672162T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672162T>C , CM000665.2:g.30672162T>C	GRCh38
NC_000003.11:g.30713654T>C , CM000665.1:g.30713654T>C	GRCh37
NC_000003.10:g.30688658T>C	NCBI36
NG_007490.1:g.70661T>C , LRG_779:g.70661T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.979T>C MANE Select	ENSP00000295754.5:p.Phe327Leu
ENST00000672866.1:n.2575T>C
ENST00000295754.9:c.979T>C	ENSP00000295754.5:p.Phe327Leu
ENST00000359013.4:c.1054T>C	ENSP00000351905.4:p.Phe352Leu
NM_001024847.2:c.1054T>C , LRG_779t1:c.1054T>C	NP_001020018.1:p.Phe352Leu
NM_003242.5:c.979T>C	NP_003233.4:p.Phe327Leu
XM_011534043.1:c.1006T>C	XP_011532345.1:p.Phe336Leu
XM_011534044.1:c.931T>C	XP_011532346.1:p.Phe311Leu
XM_011534045.1:c.874T>C	XP_011532347.1:p.Phe292Leu
XM_011534043.2:c.1006T>C	XP_011532345.1:p.Phe336Leu
XM_011534045.3:c.874T>C	XP_011532347.1:p.Phe292Leu
XM_017007106.1:c.874T>C	XP_016862595.1:p.Phe292Leu
NM_003242.6:c.979T>C MANE Select	NP_003233.4:p.Phe327Leu