Canonical Allele Identifier: CA71499029
Gene: TGFBR2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.30641447G>T
GRCh37 chr3:g.30682939G>T
gnomAD v3:
3:30641447 G / T
gnomAD v4:
chr3-30641447-G-T
Joint Max Group AF 0.00008894 (AMR)
Genomes Max Group AF 0.00008894 (AMR)
dbSNP:
12493607
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30641447G>T , CM000665.2:g.30641447G>T GRCh38
NC_000003.11:g.30682939G>T , CM000665.1:g.30682939G>T GRCh37
NC_000003.10:g.30657943G>T NCBI36
NG_007490.1:g.39946G>T , LRG_779:g.39946G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.95-3300G>T MANE Select ENSP00000295754.5:n.95-3300G>T
ENST00000672866.1:n.1691-3300G>T
ENST00000673250.1:n.219-3300G>T
ENST00000295754.9:c.95-3300G>T ENSP00000295754.5:n.95-3300G>T
ENST00000359013.4:c.170-3300G>T ENSP00000351905.4:n.170-3300G>T
NM_001024847.2:c.170-3300G>T , LRG_779t1:c.170-3300G>T NP_001020018.1:n.170-3300G>T
NM_003242.5:c.95-3300G>T NP_003233.4:n.95-3300G>T
XM_011534043.1:c.122-3300G>T XP_011532345.1:n.122-3300G>T
XM_011534044.1:c.47-3300G>T XP_011532346.1:n.47-3300G>T
XM_011534045.1:c.-11-3300G>T XP_011532347.1:n.-11-3300G>T
XM_011534043.2:c.122-3300G>T XP_011532345.1:n.122-3300G>T
XM_011534045.3:c.-11-3300G>T XP_011532347.1:n.-11-3300G>T
XM_017007106.1:c.-11-3300G>T XP_016862595.1:n.-11-3300G>T
NM_003242.6:c.95-3300G>T MANE Select NP_003233.4:n.95-3300G>T
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