Canonical Allele Identifier: CA433058245

Gene: TGFBR2

Linked Data

• dbSNP Id: rs758827786
• gnomAD v3: 3-30671828-C-T
• gnomAD v4: 3-30671828-C-T
• MyVariant Identifiers: chr3:g.30713320C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671828C>T , CM000665.2:g.30671828C>T	GRCh38
NC_000003.11:g.30713320C>T , CM000665.1:g.30713320C>T	GRCh37
NC_000003.10:g.30688324C>T	NCBI36
NG_007490.1:g.70327C>T , LRG_779:g.70327C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.645C>T MANE Select	ENSP00000295754.5:p.His215=
ENST00000672866.1:n.2241C>T
ENST00000295754.9:c.645C>T	ENSP00000295754.5:p.His215=
ENST00000359013.4:c.720C>T	ENSP00000351905.4:p.His240=
NM_001024847.2:c.720C>T , LRG_779t1:c.720C>T	NP_001020018.1:p.His240=
NM_003242.5:c.645C>T	NP_003233.4:p.His215=
XM_011534043.1:c.672C>T	XP_011532345.1:p.His224=
XM_011534044.1:c.597C>T	XP_011532346.1:p.His199=
XM_011534045.1:c.540C>T	XP_011532347.1:p.His180=
XM_011534043.2:c.672C>T	XP_011532345.1:p.His224=
XM_011534045.3:c.540C>T	XP_011532347.1:p.His180=
XM_017007106.1:c.540C>T	XP_016862595.1:p.His180=
NM_003242.6:c.645C>T MANE Select	NP_003233.4:p.His215=