Canonical Allele Identifier: CA351807964
Community Standard Title: NM_003242.6(TGFBR2):c.831G>C (p.Lys277Asn)
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672014G>C , CM000665.2:g.30672014G>C GRCh38
NC_000003.11:g.30713506G>C , CM000665.1:g.30713506G>C GRCh37
NC_000003.10:g.30688510G>C NCBI36
NG_007490.1:g.70513G>C , LRG_779:g.70513G>C

Transcript Alleles

HGVS Amino-acid Change
NM_003242.6:c.831G>C MANE Select NP_003233.4:p.Lys277Asn
ENST00000295754.10:c.831G>C MANE Select ENSP00000295754.5:p.Lys277Asn
NM_001024847.2:c.906G>C , LRG_779t1:c.906G>C NP_001020018.1:p.Lys302Asn
NM_003242.5:c.831G>C NP_003233.4:p.Lys277Asn
ENST00000295754.9:c.831G>C ENSP00000295754.5:p.Lys277Asn
ENST00000359013.4:c.906G>C ENSP00000351905.4:p.Lys302Asn
ENST00000672866.1:n.2427G>C
XM_011534043.1:c.858G>C XP_011532345.1:p.Lys286Asn
XM_011534043.2:c.858G>C XP_011532345.1:p.Lys286Asn
XM_011534044.1:c.783G>C XP_011532346.1:p.Lys261Asn
XM_011534045.1:c.726G>C XP_011532347.1:p.Lys242Asn
XM_011534045.3:c.726G>C XP_011532347.1:p.Lys242Asn
XM_017007106.1:c.726G>C XP_016862595.1:p.Lys242Asn