Canonical Allele Identifier: CA145270
Gene: GDF2 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.47322922C>T
GRCh37 chr10:g.48416440G>A
Revel Score:
ENST00000249598 0.447
gnomAD v2:
10:48416440 G / A
gnomAD v3:
10:47322922 C / T
gnomAD v4:
chr10-47322922-C-T
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000074344
ClinVar Variation:
88650
dbSNP:
199804679
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47322922C>T , CM000672.2:g.47322922C>T GRCh38
NC_000010.10:g.48416440G>A , CM000672.1:g.48416440G>A GRCh37
NC_000010.9:g.48036446G>A NCBI36
NG_033916.1:g.5433C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000581492.3:c.254C>T MANE Select ENSP00000463051.1:p.Pro85Leu
ENST00000581492.2:c.254C>T ENSP00000463051.1:p.Pro85Leu
NM_016204.2:c.254C>T NP_057288.1:p.Pro85Leu
XM_006717761.2:c.254C>T XP_006717824.1:p.Pro85Leu
NM_016204.3:c.254C>T NP_057288.1:p.Pro85Leu
NM_016204.4:c.254C>T MANE Select NP_057288.1:p.Pro85Leu
Search 100 bp 5'
Search 100 bp 3'