Canonical Allele Identifier: CA351808961
Community Standard Title: NM_003242.6(TGFBR2):c.1301T>A (p.Met434Lys)
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30674151T>A , CM000665.2:g.30674151T>A GRCh38
NC_000003.11:g.30715643T>A , CM000665.1:g.30715643T>A GRCh37
NC_000003.10:g.30690647T>A NCBI36
NG_007490.1:g.72650T>A , LRG_779:g.72650T>A

Transcript Alleles

HGVS Amino-acid Change
NM_003242.6:c.1301T>A MANE Select NP_003233.4:p.Met434Lys
ENST00000295754.10:c.1301T>A MANE Select ENSP00000295754.5:p.Met434Lys
NM_001024847.2:c.1376T>A , LRG_779t1:c.1376T>A NP_001020018.1:p.Met459Lys
NM_003242.5:c.1301T>A NP_003233.4:p.Met434Lys
ENST00000295754.9:c.1301T>A ENSP00000295754.5:p.Met434Lys
ENST00000359013.4:c.1376T>A ENSP00000351905.4:p.Met459Lys
ENST00000672866.1:n.2897T>A
ENST00000673203.1:n.179T>A
XM_011534043.1:c.1328T>A XP_011532345.1:p.Met443Lys
XM_011534043.2:c.1328T>A XP_011532345.1:p.Met443Lys
XM_011534044.1:c.1253T>A XP_011532346.1:p.Met418Lys
XM_011534045.1:c.1196T>A XP_011532347.1:p.Met399Lys
XM_011534045.3:c.1196T>A XP_011532347.1:p.Met399Lys
XM_017007106.1:c.1196T>A XP_016862595.1:p.Met399Lys