Canonical Allele Identifier: CA045484

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 918475
• ClinVar RCV Id: RCV001176110 ; RCV003898172 ; RCV004000320
• dbSNP Id: rs755843367
• ExAC: 3:30713723 C / T
• gnomAD v2: 3-30713723-C-T
• gnomAD v3: 3-30672231-C-T
• gnomAD v4: 3-30672231-C-T
• MyVariant Identifiers: chr3:g.30713723C>T (hg19) ; chr3:g.30672231C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672231C>T , CM000665.2:g.30672231C>T	GRCh38
NC_000003.11:g.30713723C>T , CM000665.1:g.30713723C>T	GRCh37
NC_000003.10:g.30688727C>T	NCBI36
NG_007490.1:g.70730C>T , LRG_779:g.70730C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1048C>T MANE Select	ENSP00000295754.5:p.Leu350=
ENST00000672866.1:n.2644C>T
ENST00000295754.9:c.1048C>T	ENSP00000295754.5:p.Leu350=
ENST00000359013.4:c.1123C>T	ENSP00000351905.4:p.Leu375=
NM_001024847.2:c.1123C>T , LRG_779t1:c.1123C>T	NP_001020018.1:p.Leu375=
NM_003242.5:c.1048C>T	NP_003233.4:p.Leu350=
XM_011534043.1:c.1075C>T	XP_011532345.1:p.Leu359=
XM_011534044.1:c.1000C>T	XP_011532346.1:p.Leu334=
XM_011534045.1:c.943C>T	XP_011532347.1:p.Leu315=
XM_011534043.2:c.1075C>T	XP_011532345.1:p.Leu359=
XM_011534045.3:c.943C>T	XP_011532347.1:p.Leu315=
XM_017007106.1:c.943C>T	XP_016862595.1:p.Leu315=
NM_003242.6:c.1048C>T MANE Select	NP_003233.4:p.Leu350=