Canonical Allele Identifier: CA2577536236
Gene: TGFBR2 HGNC NCBI

Linked Data

gnomAD v4: 3-30691338-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30691338T>C , CM000665.2:g.30691338T>C GRCh38
NC_000003.11:g.30732830T>C , CM000665.1:g.30732830T>C GRCh37
NC_000003.10:g.30707834T>C NCBI36
NG_007490.1:g.89837T>C , LRG_779:g.89837T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295754.10:c.1525-82T>C MANE Select ENSP00000295754.5:n.1525-82T>C
ENST00000672050.1:n.409-82T>C
ENST00000672866.1:n.3121-82T>C
ENST00000673203.1:n.403-82T>C
ENST00000295754.9:c.1525-82T>C ENSP00000295754.5:n.1525-82T>C
ENST00000359013.4:c.1600-82T>C ENSP00000351905.4:n.1600-82T>C
NM_001024847.2:c.1600-82T>C , LRG_779t1:c.1600-82T>C NP_001020018.1:n.1600-82T>C
NM_003242.5:c.1525-82T>C NP_003233.4:n.1525-82T>C
XM_011534043.1:c.1552-82T>C XP_011532345.1:n.1552-82T>C
XM_011534044.1:c.1477-82T>C XP_011532346.1:n.1477-82T>C
XM_011534045.1:c.1420-82T>C XP_011532347.1:n.1420-82T>C
XM_011534043.2:c.1552-82T>C XP_011532345.1:n.1552-82T>C
XM_011534045.3:c.1420-82T>C XP_011532347.1:n.1420-82T>C
XM_017007106.1:c.1420-82T>C XP_016862595.1:n.1420-82T>C
NM_003242.6:c.1525-82T>C MANE Select NP_003233.4:n.1525-82T>C