Canonical Allele Identifier: CA10587565

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 263412
• ClinVar RCV Id: RCV000244146 ; RCV002251451
• dbSNP Id: rs886038794
• COSMIC: COSM1043515 ; COSM1593590
• MyVariant Identifiers: chr3:g.30713506G>T (hg19) ; chr3:g.30672014G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672014G>T , CM000665.2:g.30672014G>T	GRCh38
NC_000003.11:g.30713506G>T , CM000665.1:g.30713506G>T	GRCh37
NC_000003.10:g.30688510G>T	NCBI36
NG_007490.1:g.70513G>T , LRG_779:g.70513G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.831G>T MANE Select	ENSP00000295754.5:p.Lys277Asn
ENST00000672866.1:n.2427G>T
ENST00000295754.9:c.831G>T	ENSP00000295754.5:p.Lys277Asn
ENST00000359013.4:c.906G>T	ENSP00000351905.4:p.Lys302Asn
NM_001024847.2:c.906G>T , LRG_779t1:c.906G>T	NP_001020018.1:p.Lys302Asn
NM_003242.5:c.831G>T	NP_003233.4:p.Lys277Asn
XM_011534043.1:c.858G>T	XP_011532345.1:p.Lys286Asn
XM_011534044.1:c.783G>T	XP_011532346.1:p.Lys261Asn
XM_011534045.1:c.726G>T	XP_011532347.1:p.Lys242Asn
XM_011534043.2:c.858G>T	XP_011532345.1:p.Lys286Asn
XM_011534045.3:c.726G>T	XP_011532347.1:p.Lys242Asn
XM_017007106.1:c.726G>T	XP_016862595.1:p.Lys242Asn
NM_003242.6:c.831G>T MANE Select	NP_003233.4:p.Lys277Asn