Canonical Allele Identifier: CA351808459

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 477533
• ClinVar RCV Id: RCV000557035
• dbSNP Id: rs1553630235
• COSMIC: COSM1168994
• MyVariant Identifiers: chr3:g.30713733C>T (hg19) ; chr3:g.30672241C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672241C>T , CM000665.2:g.30672241C>T	GRCh38
NC_000003.11:g.30713733C>T , CM000665.1:g.30713733C>T	GRCh37
NC_000003.10:g.30688737C>T	NCBI36
NG_007490.1:g.70740C>T , LRG_779:g.70740C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1058C>T MANE Select	ENSP00000295754.5:p.Ser353Phe
ENST00000672866.1:n.2654C>T
ENST00000295754.9:c.1058C>T	ENSP00000295754.5:p.Ser353Phe
ENST00000359013.4:c.1133C>T	ENSP00000351905.4:p.Ser378Phe
NM_001024847.2:c.1133C>T , LRG_779t1:c.1133C>T	NP_001020018.1:p.Ser378Phe
NM_003242.5:c.1058C>T	NP_003233.4:p.Ser353Phe
XM_011534043.1:c.1085C>T	XP_011532345.1:p.Ser362Phe
XM_011534044.1:c.1010C>T	XP_011532346.1:p.Ser337Phe
XM_011534045.1:c.953C>T	XP_011532347.1:p.Ser318Phe
XM_011534043.2:c.1085C>T	XP_011532345.1:p.Ser362Phe
XM_011534045.3:c.953C>T	XP_011532347.1:p.Ser318Phe
XM_017007106.1:c.953C>T	XP_016862595.1:p.Ser318Phe
NM_003242.6:c.1058C>T MANE Select	NP_003233.4:p.Ser353Phe