Canonical Allele Identifier: CA11592423
Gene: TGFBR2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.30641447G>C
GRCh37 chr3:g.30682939G>C
gnomAD v2:
3:30682939 G / C
gnomAD v3:
3:30641447 G / C
gnomAD v4:
chr3-30641447-G-C
Joint Max Group AF 0.6641215 (EAS)
Genomes Max Group AF 0.6641215 (EAS)
ClinVar Allele:
227595
ClinVar RCV:
RCV001516870
RCV001675674
ClinVar Variation:
225780
dbSNP:
12493607
JSON-LD

Genomic Alleles

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

Transcript Alleles

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