Canonical Allele Identifier: CA145271
Gene: GDF2 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.47322871G>T
GRCh37 chr10:g.48416491C>A
Revel Score:
ENST00000249598 0.452
gnomAD v3:
10:47322871 G / T
gnomAD v4:
chr10-47322871-G-T
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
ClinVar RCV:
RCV000074345
ClinVar Variation:
88651
dbSNP:
200330818
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47322871G>T , CM000672.2:g.47322871G>T GRCh38
NC_000010.10:g.48416491C>A , CM000672.1:g.48416491C>A GRCh37
NC_000010.9:g.48036497C>A NCBI36
NG_033916.1:g.5382G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000581492.3:c.203G>T MANE Select ENSP00000463051.1:p.Arg68Leu
ENST00000581492.2:c.203G>T ENSP00000463051.1:p.Arg68Leu
NM_016204.2:c.203G>T NP_057288.1:p.Arg68Leu
XM_006717761.2:c.203G>T XP_006717824.1:p.Arg68Leu
NM_016204.3:c.203G>T NP_057288.1:p.Arg68Leu
NM_016204.4:c.203G>T MANE Select NP_057288.1:p.Arg68Leu
Search 100 bp 5'
Search 100 bp 3'