Canonical Allele Identifier: CA045538
Gene: TGFBR2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.30672246G>T
GRCh37 chr3:g.30713738G>T
Revel Score:
ENST00000295754 (MANE Select) 0.652
ENST00000359013 0.652
ENST00000439925 0.652
gnomAD v2:
3:30713738 G / T
gnomAD v4:
chr3-30672246-G-T
Joint Max Group AF 0.0000037 (SAS)
Exomes Max Group AF 0.0000039 (SAS)
ClinVar RCV:
RCV004013181
ClinVar Variation:
3070671
dbSNP:
104893813
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672246G>T , CM000665.2:g.30672246G>T GRCh38
NC_000003.11:g.30713738G>T , CM000665.1:g.30713738G>T GRCh37
NC_000003.10:g.30688742G>T NCBI36
NG_007490.1:g.70745G>T , LRG_779:g.70745G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1063G>T MANE Select ENSP00000295754.5:p.Ala355Ser
ENST00000672866.1:n.2659G>T
ENST00000295754.9:c.1063G>T ENSP00000295754.5:p.Ala355Ser
ENST00000359013.4:c.1138G>T ENSP00000351905.4:p.Ala380Ser
NM_001024847.2:c.1138G>T , LRG_779t1:c.1138G>T NP_001020018.1:p.Ala380Ser
NM_003242.5:c.1063G>T NP_003233.4:p.Ala355Ser
XM_011534043.1:c.1090G>T XP_011532345.1:p.Ala364Ser
XM_011534044.1:c.1015G>T XP_011532346.1:p.Ala339Ser
XM_011534045.1:c.958G>T XP_011532347.1:p.Ala320Ser
XM_011534043.2:c.1090G>T XP_011532345.1:p.Ala364Ser
XM_011534045.3:c.958G>T XP_011532347.1:p.Ala320Ser
XM_017007106.1:c.958G>T XP_016862595.1:p.Ala320Ser
NM_003242.6:c.1063G>T MANE Select NP_003233.4:p.Ala355Ser
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