Canonical Allele Identifier: CA049716

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 344659
• ClinVar RCV Id: RCV000266080 ; RCV000318801 ; RCV000357700 ; RCV003995879
• dbSNP Id: rs768508812
• ExAC: 3:30713371 C / T
• gnomAD v2: 3-30713371-C-T
• gnomAD v3: 3-30671879-C-T
• gnomAD v4: 3-30671879-C-T
• MyVariant Identifiers: chr3:g.30713371C>T (hg19) ; chr3:g.30671879C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671879C>T , CM000665.2:g.30671879C>T	GRCh38
NC_000003.11:g.30713371C>T , CM000665.1:g.30713371C>T	GRCh37
NC_000003.10:g.30688375C>T	NCBI36
NG_007490.1:g.70378C>T , LRG_779:g.70378C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.696C>T MANE Select	ENSP00000295754.5:p.Ala232=
ENST00000672866.1:n.2292C>T
ENST00000295754.9:c.696C>T	ENSP00000295754.5:p.Ala232=
ENST00000359013.4:c.771C>T	ENSP00000351905.4:p.Ala257=
NM_001024847.2:c.771C>T , LRG_779t1:c.771C>T	NP_001020018.1:p.Ala257=
NM_003242.5:c.696C>T	NP_003233.4:p.Ala232=
XM_011534043.1:c.723C>T	XP_011532345.1:p.Ala241=
XM_011534044.1:c.648C>T	XP_011532346.1:p.Ala216=
XM_011534045.1:c.591C>T	XP_011532347.1:p.Ala197=
XM_011534043.2:c.723C>T	XP_011532345.1:p.Ala241=
XM_011534045.3:c.591C>T	XP_011532347.1:p.Ala197=
XM_017007106.1:c.591C>T	XP_016862595.1:p.Ala197=
NM_003242.6:c.696C>T MANE Select	NP_003233.4:p.Ala232=