Canonical Allele Identifier: CA351808679

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 3013055
• ClinVar RCV Id: RCV003870150
• MyVariant Identifiers: chr3:g.30713842C>G (hg19) ; chr3:g.30672350C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672350C>G , CM000665.2:g.30672350C>G	GRCh38
NC_000003.11:g.30713842C>G , CM000665.1:g.30713842C>G	GRCh37
NC_000003.10:g.30688846C>G	NCBI36
NG_007490.1:g.70849C>G , LRG_779:g.70849C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1167C>G MANE Select	ENSP00000295754.5:p.Asn389Lys
ENST00000672866.1:n.2763C>G
ENST00000295754.9:c.1167C>G	ENSP00000295754.5:p.Asn389Lys
ENST00000359013.4:c.1242C>G	ENSP00000351905.4:p.Asn414Lys
NM_001024847.2:c.1242C>G , LRG_779t1:c.1242C>G	NP_001020018.1:p.Asn414Lys
NM_003242.5:c.1167C>G	NP_003233.4:p.Asn389Lys
XM_011534043.1:c.1194C>G	XP_011532345.1:p.Asn398Lys
XM_011534044.1:c.1119C>G	XP_011532346.1:p.Asn373Lys
XM_011534045.1:c.1062C>G	XP_011532347.1:p.Asn354Lys
XM_011534043.2:c.1194C>G	XP_011532345.1:p.Asn398Lys
XM_011534045.3:c.1062C>G	XP_011532347.1:p.Asn354Lys
XM_017007106.1:c.1062C>G	XP_016862595.1:p.Asn354Lys
NM_003242.6:c.1167C>G MANE Select	NP_003233.4:p.Asn389Lys