Canonical Allele Identifier: CA351830633
Gene: TGFBR2 HGNC NCBI

Linked Data

gnomAD v4: 3-30606971-A-G
MyVariant Identifiers: chr3:g.30648463A>G (hg19) chr3:g.30606971A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606971A>G , CM000665.2:g.30606971A>G GRCh38
NC_000003.11:g.30648463A>G , CM000665.1:g.30648463A>G GRCh37
NC_000003.10:g.30623467A>G NCBI36
NG_007490.1:g.5470A>G , LRG_779:g.5470A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.88A>G MANE Select ENSP00000295754.5:p.Lys30Glu
ENST00000295754.9:c.88A>G ENSP00000295754.5:p.Lys30Glu
ENST00000359013.4:c.88A>G ENSP00000351905.4:p.Lys30Glu
NM_001024847.2:c.88A>G , LRG_779t1:c.88A>G NP_001020018.1:p.Lys30Glu
NM_003242.5:c.88A>G NP_003233.4:p.Lys30Glu
XM_011534045.1:c.-12+378A>G XP_011532347.1:n.-12+378A>G
XM_011534045.3:c.-12+378A>G XP_011532347.1:n.-12+378A>G
NM_003242.6:c.88A>G MANE Select NP_003233.4:p.Lys30Glu
Search 100 bp 5'
Search 100 bp 3'