Canonical Allele Identifier: CA351830632
Gene: TGFBR2 HGNC NCBI

Linked Data

gnomAD v4: 3-30606971-A-C
MyVariant Identifiers: chr3:g.30648463A>C (hg19) chr3:g.30606971A>C (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.88A>C MANE Select ENSP00000295754.5:p.Lys30Gln
ENST00000295754.9:c.88A>C ENSP00000295754.5:p.Lys30Gln
ENST00000359013.4:c.88A>C ENSP00000351905.4:p.Lys30Gln
NM_001024847.2:c.88A>C , LRG_779t1:c.88A>C NP_001020018.1:p.Lys30Gln
NM_003242.5:c.88A>C NP_003233.4:p.Lys30Gln
XM_011534045.1:c.-12+378A>C XP_011532347.1:n.-12+378A>C
XM_011534045.3:c.-12+378A>C XP_011532347.1:n.-12+378A>C
NM_003242.6:c.88A>C MANE Select NP_003233.4:p.Lys30Gln
Search 100 bp 5'
Search 100 bp 3'