Canonical Allele Identifier: CA433058557

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1381757819
• gnomAD v3: 3-30671912-C-T
• gnomAD v4: 3-30671912-C-T
• MyVariant Identifiers: chr3:g.30713404C>T (hg19) ; chr3:g.30671912C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671912C>T , CM000665.2:g.30671912C>T	GRCh38
NC_000003.11:g.30713404C>T , CM000665.1:g.30713404C>T	GRCh37
NC_000003.10:g.30688408C>T	NCBI36
NG_007490.1:g.70411C>T , LRG_779:g.70411C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.729C>T MANE Select	ENSP00000295754.5:p.Pro243=
ENST00000672866.1:n.2325C>T
ENST00000295754.9:c.729C>T	ENSP00000295754.5:p.Pro243=
ENST00000359013.4:c.804C>T	ENSP00000351905.4:p.Pro268=
NM_001024847.2:c.804C>T , LRG_779t1:c.804C>T	NP_001020018.1:p.Pro268=
NM_003242.5:c.729C>T	NP_003233.4:p.Pro243=
XM_011534043.1:c.756C>T	XP_011532345.1:p.Pro252=
XM_011534044.1:c.681C>T	XP_011532346.1:p.Pro227=
XM_011534045.1:c.624C>T	XP_011532347.1:p.Pro208=
XM_011534043.2:c.756C>T	XP_011532345.1:p.Pro252=
XM_011534045.3:c.624C>T	XP_011532347.1:p.Pro208=
XM_017007106.1:c.624C>T	XP_016862595.1:p.Pro208=
NM_003242.6:c.729C>T MANE Select	NP_003233.4:p.Pro243=