Canonical Allele Identifier: CA2527007647
Gene: TGFBR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30608526T>C , CM000665.2:g.30608526T>C GRCh38
NC_000003.11:g.30650018T>C , CM000665.1:g.30650018T>C GRCh37
NC_000003.10:g.30625022T>C NCBI36
NG_007490.1:g.7025T>C , LRG_779:g.7025T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295754.10:c.94+1549T>C MANE Select ENSP00000295754.5:n.94+1549T>C
ENST00000295754.9:c.94+1549T>C ENSP00000295754.5:n.94+1549T>C
ENST00000359013.4:c.94+1549T>C ENSP00000351905.4:n.94+1549T>C
NM_001024847.2:c.94+1549T>C , LRG_779t1:c.94+1549T>C NP_001020018.1:n.94+1549T>C
NM_003242.5:c.94+1549T>C NP_003233.4:n.94+1549T>C
XM_011534045.1:c.-12+1933T>C XP_011532347.1:n.-12+1933T>C
XM_011534045.3:c.-12+1933T>C XP_011532347.1:n.-12+1933T>C
NM_003242.6:c.94+1549T>C MANE Select NP_003233.4:n.94+1549T>C
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