Canonical Allele Identifier: CA433058677
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs2125434367
MyVariant Identifiers: chr3:g.30713467G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30671975G>A , CM000665.2:g.30671975G>A GRCh38
NC_000003.11:g.30713467G>A , CM000665.1:g.30713467G>A GRCh37
NC_000003.10:g.30688471G>A NCBI36
NG_007490.1:g.70474G>A , LRG_779:g.70474G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.792G>A MANE Select ENSP00000295754.5:p.Lys264=
ENST00000672866.1:n.2388G>A
ENST00000295754.9:c.792G>A ENSP00000295754.5:p.Lys264=
ENST00000359013.4:c.867G>A ENSP00000351905.4:p.Lys289=
NM_001024847.2:c.867G>A , LRG_779t1:c.867G>A NP_001020018.1:p.Lys289=
NM_003242.5:c.792G>A NP_003233.4:p.Lys264=
XM_011534043.1:c.819G>A XP_011532345.1:p.Lys273=
XM_011534044.1:c.744G>A XP_011532346.1:p.Lys248=
XM_011534045.1:c.687G>A XP_011532347.1:p.Lys229=
XM_011534043.2:c.819G>A XP_011532345.1:p.Lys273=
XM_011534045.3:c.687G>A XP_011532347.1:p.Lys229=
XM_017007106.1:c.687G>A XP_016862595.1:p.Lys229=
NM_003242.6:c.792G>A MANE Select NP_003233.4:p.Lys264=