Canonical Allele Identifier: CA351830666
Gene: TGFBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30623200T>A , CM000665.2:g.30623200T>A GRCh38
NC_000003.11:g.30664692T>A , CM000665.1:g.30664692T>A GRCh37
NC_000003.10:g.30639696T>A NCBI36
NG_007490.1:g.21699T>A , LRG_779:g.21699T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.94+16223T>A MANE Select ENSP00000295754.5:n.94+16223T>A
ENST00000673250.1:n.145T>A
ENST00000295754.9:c.94+16223T>A ENSP00000295754.5:n.94+16223T>A
ENST00000359013.4:c.96T>A ENSP00000351905.4:p.Asp32Glu
NM_001024847.2:c.96T>A , LRG_779t1:c.96T>A NP_001020018.1:p.Asp32Glu
NM_003242.5:c.94+16223T>A NP_003233.4:n.94+16223T>A
XM_011534043.1:c.48T>A XP_011532345.1:p.Asp16Glu
XM_011534044.1:c.46+8494T>A XP_011532346.1:n.46+8494T>A
XM_011534045.1:c.-12+16607T>A XP_011532347.1:n.-12+16607T>A
XM_011534043.2:c.48T>A XP_011532345.1:p.Asp16Glu
XM_011534045.3:c.-12+16607T>A XP_011532347.1:n.-12+16607T>A
NM_003242.6:c.94+16223T>A MANE Select NP_003233.4:n.94+16223T>A