Canonical Allele Identifier: CA5487969
Gene: GDF2 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.47325491C>A
GRCh37 chr10:g.48413871G>T
gnomAD v2:
10:48413871 G / T
gnomAD v3:
10:47325491 C / A
gnomAD v4:
chr10-47325491-C-A
Joint Max Group AF 0.00000247 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV002383006
ClinVar Variation:
1768789
dbSNP:
35129734
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47325491C>A , CM000672.2:g.47325491C>A GRCh38
NC_000010.10:g.48413871G>T , CM000672.1:g.48413871G>T GRCh37
NC_000010.9:g.48033877G>T NCBI36
NG_033916.1:g.8002C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000581492.3:c.997C>A MANE Select ENSP00000463051.1:p.Arg333=
ENST00000581492.2:c.997C>A ENSP00000463051.1:p.Arg333=
NM_016204.2:c.997C>A NP_057288.1:p.Arg333=
XM_006717761.2:c.997C>A XP_006717824.1:p.Arg333=
NM_016204.3:c.997C>A NP_057288.1:p.Arg333=
NM_016204.4:c.997C>A MANE Select NP_057288.1:p.Arg333=
Search 100 bp 5'
Search 100 bp 3'