Canonical Allele Identifier: CA72289942
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs374663229
MyVariant Identifiers: chr3:g.30648231G>C (hg19) chr3:g.30606739G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606739G>C , CM000665.2:g.30606739G>C GRCh38
NC_000003.11:g.30648231G>C , CM000665.1:g.30648231G>C GRCh37
NC_000003.10:g.30623235G>C NCBI36
NG_007490.1:g.5238G>C , LRG_779:g.5238G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.-145G>C MANE Select ENSP00000295754.5:n.-145G>C
ENST00000295754.9:c.-145G>C ENSP00000295754.5:n.-145G>C
ENST00000359013.4:c.-145G>C ENSP00000351905.4:n.-145G>C
NM_001024847.2:c.-145G>C , LRG_779t1:c.-145G>C NP_001020018.1:n.-145G>C
NM_003242.5:c.-145G>C NP_003233.4:n.-145G>C
XM_011534045.1:c.-12+146G>C XP_011532347.1:n.-12+146G>C
XM_011534045.3:c.-12+146G>C XP_011532347.1:n.-12+146G>C
NM_003242.6:c.-145G>C MANE Select NP_003233.4:n.-145G>C
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