Canonical Allele Identifier: CA16611309
Community Standard Title: NM_003242.6(TGFBR2):c.202A>C (p.Met68Leu)
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30644854A>C , CM000665.2:g.30644854A>C GRCh38
NC_000003.11:g.30686346A>C , CM000665.1:g.30686346A>C GRCh37
NC_000003.10:g.30661350A>C NCBI36
NG_007490.1:g.43353A>C , LRG_779:g.43353A>C

Transcript Alleles

HGVS Amino-acid Change
NM_003242.6:c.202A>C MANE Select NP_003233.4:p.Met68Leu
ENST00000295754.10:c.202A>C MANE Select ENSP00000295754.5:p.Met68Leu
NM_001024847.2:c.277A>C , LRG_779t1:c.277A>C NP_001020018.1:p.Met93Leu
NM_003242.5:c.202A>C NP_003233.4:p.Met68Leu
ENST00000295754.9:c.202A>C ENSP00000295754.5:p.Met68Leu
ENST00000359013.4:c.277A>C ENSP00000351905.4:p.Met93Leu
ENST00000672866.1:n.1798A>C
ENST00000673250.1:n.326A>C
XM_011534043.1:c.229A>C XP_011532345.1:p.Met77Leu
XM_011534043.2:c.229A>C XP_011532345.1:p.Met77Leu
XM_011534044.1:c.154A>C XP_011532346.1:p.Met52Leu
XM_011534045.1:c.97A>C XP_011532347.1:p.Met33Leu
XM_011534045.3:c.97A>C XP_011532347.1:p.Met33Leu
XM_017007106.1:c.97A>C XP_016862595.1:p.Met33Leu